Li-Fraumeni Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LFS1 MCID: LFR009 MIFTS: 26	Li-Fraumeni Syndrome 1 (LFS1) Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Collapse all tables

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Aliases & Classifications for Li-Fraumeni Syndrome 1

MalaCards integrated aliases for Li-Fraumeni Syndrome 1:

Name: Li-Fraumeni Syndrome 1 ¹² ²⁹ ⁶ ¹⁵

Li-Fraumeni Syndrome, Type 1 ³⁹

Lfs1 ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Endocrine diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111503

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Summaries for Li-Fraumeni Syndrome 1

Disease Ontology : ¹² A Li-Fraumeni syndrome that has material basis in heterozygous mutation in TP53 on chromosome 17p13.1.

MalaCards based summary : Li-Fraumeni Syndrome 1, also known as li-fraumeni syndrome, type 1, is related to li-fraumeni syndrome and dyskeratosis congenita, autosomal recessive 3. An important gene associated with Li-Fraumeni Syndrome 1 is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Human T-cell leukemia virus 1 infection and Cellular senescence (KEGG).

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Related Diseases for Li-Fraumeni Syndrome 1

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2

Li-Fraumeni Syndrome 1

Diseases related to Li-Fraumeni Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 8, show less)

#	Related Disease	Score	Top Affiliating Genes
1	li-fraumeni syndrome	32.5	WRAP53 TP53 CHEK2
2	dyskeratosis congenita, autosomal recessive 3	10.2	WRAP53 TP53
3	cervical adenoma malignum	10.1	TP53 CHEK2
4	dyskeratosis congenita autosomal recessive	10.1	WRAP53 TP53
5	peripheral osteosarcoma	10.0	TP53 SNRNP25
6	bone osteosarcoma	9.9	TP53 SNRNP25
7	adrenocortical carcinoma, hereditary	9.8	TP53 CHEK2
8	li-fraumeni syndrome 2	8.9	SNRNP25 SLC25A5 ME2 KRTAP10-1 DOCK5 CHEK2

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 1:

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Symptoms & Phenotypes for Li-Fraumeni Syndrome 1

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Drugs & Therapeutics for Li-Fraumeni Syndrome 1

Search Clinical Trials , NIH Clinical Center for Li-Fraumeni Syndrome 1

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Genetic Tests for Li-Fraumeni Syndrome 1

Genetic tests related to Li-Fraumeni Syndrome 1:

#	Genetic test	Affiliating Genes
1	Li-Fraumeni Syndrome 1 ²⁹	TP53

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Anatomical Context for Li-Fraumeni Syndrome 1

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Publications for Li-Fraumeni Syndrome 1

Articles related to Li-Fraumeni Syndrome 1:

(showing 1, show less)

#	Title	Authors	PMID	Year
1	The etiology of osteosarcoma. ⁶¹	Ottaviani G...Jaffe N	20213384	2009

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Genes for Li-Fraumeni Syndrome 1

Genes related to Li-Fraumeni Syndrome 1 (1 elite genes):

(showing 13, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TP53	Tumor Protein P53	Protein Coding	540.4	Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ Drug response ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	CHEK2	Checkpoint Kinase 2	Protein Coding	12.67	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	WRAP53	WD Repeat Containing Antisense To TP53	Protein Coding	8.14	GeneCards inferred via : Variants (show sections)
4	KRTAP10-1	Keratin Associated Protein 10-1	Protein Coding	5.7	DISEASES inferred ¹⁵
5	ME2	Malic Enzyme 2	Protein Coding	5.58	DISEASES inferred ¹⁵
6	DOCK5	Dedicator Of Cytokinesis 5	Protein Coding	5.45	DISEASES inferred ¹⁵
7	FTCDNL1	Formiminotransferase Cyclodeaminase N-Terminal Like	Protein Coding	5.2	DISEASES inferred ¹⁵
8	SLC17A8	Solute Carrier Family 17 Member 8	Protein Coding	5.12	DISEASES inferred ¹⁵
9	SNRNP25	Small Nuclear Ribonucleoprotein U11/U12 Subunit 25	Protein Coding	4.99	DISEASES inferred ¹⁵
10	SLC25A5	Solute Carrier Family 25 Member 5	Protein Coding	4.9	DISEASES inferred ¹⁵
11	GABBR2	Gamma-Aminobutyric Acid Type B Receptor Subunit 2	Protein Coding	4.88	DISEASES inferred ¹⁵
12	PCAT4	Prostate Cancer Associated Transcript 4	RNA Gene	4.87	DISEASES inferred ¹⁵
13	POU6F2	POU Class 6 Homeobox 2	Protein Coding	4.76	DISEASES inferred ¹⁵

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Variations for Li-Fraumeni Syndrome 1

ClinVar genetic disease variations for Li-Fraumeni Syndrome 1:

⁶ (showing 172, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TP53	NM_001126112.2(TP53):c.1015G>T (p.Glu339Ter)	SNV	Pathogenic	438708	rs17882252	17:7574012-7574012	17:7670694-7670694
2	TP53	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	SNV	Pathogenic	12347	rs121912651	17:7577539-7577539	17:7674221-7674221
3	TP53	NM_001126112.2(TP53):c.733G>T (p.Gly245Cys)	SNV	Pathogenic	12349	rs28934575	17:7577548-7577548	17:7674230-7674230
4	TP53	NM_001126112.2(TP53):c.755T>C (p.Leu252Pro)	SNV	Pathogenic	12350	rs121912653	17:7577526-7577526	17:7674208-7674208
5	TP53	NM_001126112.2(TP53):c.875A>T (p.Lys292Ile)	SNV	Pathogenic	12378	rs121912663	17:7577063-7577063	17:7673745-7673745
6	TP53	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV	Pathogenic	12379	rs121912664	17:7574017-7574017	17:7670699-7670699
7	TP53	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV	Pathogenic	12356	rs11540652	17:7577538-7577538	17:7674220-7674220
8	TP53	NM_001126112.2(TP53):c.398T>C (p.Met133Thr)	SNV	Pathogenic	12357	rs28934873	17:7578532-7578532	17:7675214-7675214
9	TP53	NM_001126112.2(TP53):c.628_629del (p.Asn210fs)	deletion	Pathogenic	12361	rs587776768	17:7578220-7578221	17:7674902-7674903
10	TP53	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV	Pathogenic	12365	rs28934575	17:7577548-7577548	17:7674230-7674230
11	TP53	NM_000546.6(TP53):c.818G>A (p.Arg273His)	SNV	Pathogenic	12366	rs28934576	17:7577120-7577120	17:7673802-7673802
12	TP53	NM_001126112.2(TP53):c.532del (p.His178fs)	deletion	Pathogenic	12377	rs786202525	17:7578398-7578398	17:7675080-7675080
13	TP53	TP53, 1-BP DEL, CODON 257	deletion	Pathogenic	12373
14	TP53	TP53, 11-BP DEL/5-BP INS	indel	Pathogenic	12381
15	TP53	NM_000546.6(TP53):c.524G>A (p.Arg175His)	SNV	Pathogenic	12374	rs28934578	17:7578406-7578406	17:7675088-7675088
16	TP53	NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser)	SNV	Pathogenic	12383	rs121912666	17:7578190-7578190	17:7674872-7674872
17	TP53	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	SNV	Pathogenic	43590	rs397516436	17:7578212-7578212	17:7674894-7674894
18	TP53	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV	Pathogenic	135359	rs587778720	17:7578211-7578211	17:7674893-7674893
19	TP53	NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	SNV	Pathogenic	142766	rs587782705	17:7578475-7578475	17:7675157-7675157
20	TP53	NM_001126112.2(TP53):c.455dup (p.Pro153fs)	duplication	Pathogenic	182958	rs730882019	17:7578474-7578475	17:7675156-7675157
21	TP53	NM_001126112.2(TP53):c.273G>A (p.Trp91Ter)	SNV	Pathogenic	233650	rs876660548	17:7579414-7579414	17:7676096-7676096
22	TP53	NM_001126112.2(TP53):c.794T>C (p.Leu265Pro)	SNV	Pathogenic/Likely pathogenic	245777	rs879253942	17:7577144-7577144	17:7673826-7673826
23	TP53	NM_001126112.2(TP53):c.799C>T (p.Arg267Trp)	SNV	Pathogenic/Likely pathogenic	141764	rs55832599	17:7577139-7577139	17:7673821-7673821
24	TP53	NM_000546.6(TP53):c.473G>A (p.Arg158His)	SNV	Pathogenic/Likely pathogenic	141963	rs587782144	17:7578457-7578457	17:7675139-7675139
25	TP53	NM_000546.6(TP53):c.542G>A (p.Arg181His)	SNV	Pathogenic/Likely pathogenic	142320	rs397514495	17:7578388-7578388	17:7675070-7675070
26	TP53	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV	Pathogenic/Likely pathogenic	43594	rs121913343	17:7577121-7577121	17:7673803-7673803
27	TP53	NM_001126112.2(TP53):c.535C>T (p.His179Tyr)	SNV	Pathogenic/Likely pathogenic	127815	rs587780070	17:7578395-7578395	17:7675077-7675077
28	TP53	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV	Pathogenic/Likely pathogenic	12364	rs28934574	17:7577094-7577094	17:7673776-7673776
29	TP53	NM_001126112.2(TP53):c.734G>A (p.Gly245Asp)	SNV	Pathogenic/Likely pathogenic	12355	rs121912656	17:7577547-7577547	17:7674229-7674229
30	TP53	NM_001126112.2(TP53):c.772G>A (p.Glu258Lys)	SNV	Pathogenic/Likely pathogenic	12348	rs121912652	17:7577509-7577509	17:7674191-7674191
31	TP53	NM_001126112.2(TP53):c.96+1G>T	SNV	Pathogenic/Likely pathogenic	482212	rs1131691003	17:7579699-7579699	17:7676381-7676381
32	TP53	NM_001126112.2(TP53):c.499C>T (p.Gln167Ter)	SNV	Pathogenic/Likely pathogenic	528250	rs1555526097	17:7578431-7578431	17:7675113-7675113
33	TP53	NM_001126112.2(TP53):c.559+1G>A	SNV	Pathogenic/Likely pathogenic	428908	rs1131691042	17:7578370-7578370	17:7675052-7675052
34	TP53	NM_001126112.2(TP53):c.38dup (p.Leu14fs)	duplication	Likely pathogenic	487431	rs1555527002	17:7579874-7579875	17:7676556-7676557
35	TP53	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	SNV	drug response	12351	rs1042522	17:7579472-7579472	17:7676154-7676154
36	TP53	NM_001126112.2(TP53):c.919+1G>A	SNV	Likely pathogenic	633606	rs1131691039	17:7577018-7577018	17:7673700-7673700
37	TP53	NM_001126112.2(TP53):c.814G>T (p.Val272Leu)	SNV	Likely pathogenic	12358	rs121912657	17:7577124-7577124	17:7673806-7673806
38	TP53	NM_001126112.2(TP53):c.412G>C (p.Ala138Pro)	SNV	Likely pathogenic	12376	rs28934875	17:7578518-7578518	17:7675200-7675200
39	TP53	NM_001126112.2(TP53):c.1031T>C (p.Leu344Pro)	SNV	Likely pathogenic	12375	rs121912662	17:7573996-7573996	17:7670678-7670678
40	TP53	NM_001126112.2(TP53):c.267del (p.Ser90fs)	deletion	Likely pathogenic	156515	rs587783062	17:7579420-7579420	17:7676102-7676102
41	TP53	NM_001126112.2(TP53):c.665C>T (p.Pro222Leu)	SNV	Conflicting interpretations of pathogenicity	161397	rs146340390	17:7578184-7578184	17:7674866-7674866
42	TP53	NM_001126112.2(TP53):c.1015G>A (p.Glu339Lys)	SNV	Conflicting interpretations of pathogenicity	142846	rs17882252	17:7574012-7574012	17:7670694-7670694
43	TP53	NM_001126112.2(TP53):c.787A>G (p.Asn263Asp)	SNV	Conflicting interpretations of pathogenicity	142916	rs72661119	17:7577151-7577151	17:7673833-7673833
44	TP53	NM_001126112.2(TP53):c.646G>A (p.Val216Met)	SNV	Conflicting interpretations of pathogenicity	182965	rs730882025	17:7578203-7578203	17:7674885-7674885
45	TP53	NM_001126112.2(TP53):c.993+13G>C	SNV	Conflicting interpretations of pathogenicity	182949	rs369599972	17:7576840-7576840	17:7673522-7673522
46	TP53	NM_001126112.2(TP53):c.782+12C>T	SNV	Conflicting interpretations of pathogenicity	182948	rs17881780	17:7577487-7577487	17:7674169-7674169
47	TP53	NM_001126112.2(TP53):c.848G>A (p.Arg283His)	SNV	Conflicting interpretations of pathogenicity	142324	rs371409680	17:7577090-7577090	17:7673772-7673772
48	TP53	NM_001126112.2(TP53):c.427G>A (p.Val143Met)	SNV	Conflicting interpretations of pathogenicity	142657	rs587782620	17:7578503-7578503	17:7675185-7675185
49	TP53	NM_001126112.2(TP53):c.107C>A (p.Pro36Gln)	SNV	Conflicting interpretations of pathogenicity	141597	rs587781866	17:7579580-7579580	17:7676262-7676262
50	TP53	NM_000546.6(TP53):c.642T>G (p.His214Gln)	SNV	Conflicting interpretations of pathogenicity	140943	rs587781386	17:7578207-7578207	17:7674889-7674889
51	TP53	NM_001126112.2(TP53):c.766A>G (p.Thr256Ala)	SNV	Conflicting interpretations of pathogenicity	141011	rs587781433	17:7577515-7577515	17:7674197-7674197
52	TP53	NM_001126112.2(TP53):c.655C>T (p.Pro219Ser)	SNV	Conflicting interpretations of pathogenicity	245673	rs879253894	17:7578194-7578194	17:7674876-7674876
53	TP53	NM_001126112.2(TP53):c.845G>A (p.Arg282Gln)	SNV	Conflicting interpretations of pathogenicity	237956	rs730882008	17:7577093-7577093	17:7673775-7673775
54	TP53	NM_001126112.2(TP53):c.374C>T (p.Thr125Met)	SNV	Conflicting interpretations of pathogenicity	183748	rs786201057	17:7579313-7579313	17:7675995-7675995
55	TP53	NM_001126112.2(TP53):c.97-9C>T	SNV	Conflicting interpretations of pathogenicity	182945	rs202217267	17:7579599-7579599	17:7676281-7676281
56	TP53	NM_001126112.2(TP53):c.566C>T (p.Ala189Val)	SNV	Conflicting interpretations of pathogenicity	12382	rs121912665	17:7578283-7578283	17:7674965-7674965
57	TP53	NM_001126112.2(TP53):c.*1175A>C	SNV	Conflicting interpretations of pathogenicity	35555	rs78378222	17:7571752-7571752	17:7668434-7668434
58	TP53	NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	SNV	Conflicting interpretations of pathogenicity	41723	rs201382018	17:7579882-7579882	17:7676564-7676564
59	TP53	NM_000546.6(TP53):c.91G>A (p.Val31Ile)	SNV	Conflicting interpretations of pathogenicity	127827	rs201753350	17:7579705-7579705	17:7676387-7676387
60	TP53	NM_001126112.2(TP53):c.173C>G (p.Pro58Arg)	SNV	Conflicting interpretations of pathogenicity	127804	rs144386518	17:7579514-7579514	17:7676196-7676196
61	TP53	NM_001126112.2(TP53):c.248C>T (p.Ala83Val)	SNV	Conflicting interpretations of pathogenicity	127805	rs201717599	17:7579439-7579439	17:7676121-7676121
62	TP53	NM_001126112.2(TP53):c.466C>T (p.Arg156Cys)	SNV	Conflicting interpretations of pathogenicity	127810	rs563378859	17:7578464-7578464	17:7675146-7675146
63	TP53	NM_001126113.2(TP53):c.1009C>T (p.Arg337Ter)	SNV	Conflicting interpretations of pathogenicity	492643	rs554738122	17:7576569-7576569	17:7673251-7673251
64	TP53	NM_001126112.2(TP53):c.31G>A (p.Glu11Lys)	SNV	Conflicting interpretations of pathogenicity	418693	rs201382018	17:7579882-7579882	17:7676564-7676564
65	CHEK2	NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)	SNV	Conflicting interpretations of pathogenicity	420225	rs767043399	22:29085183-29085183	22:28689195-28689195
66	TP53	NM_001126112.2(TP53):c.993+8G>A	SNV	Conflicting interpretations of pathogenicity	414029	rs1060504163	17:7576845-7576845	17:7673527-7673527
67	TP53	NM_001126112.2(TP53):c.673-37C>T	SNV	Conflicting interpretations of pathogenicity	371964	rs374907737	17:7577645-7577645	17:7674327-7674327
68	TP53	NM_001126112.2(TP53):c.74+9A>C	SNV	Conflicting interpretations of pathogenicity	371949	rs1057517593	17:7579830-7579830	17:7676512-7676512
69	TP53	NM_001126112.2(TP53):c.724T>A (p.Cys242Ser)	SNV	Conflicting interpretations of pathogenicity	376579	rs1057519982	17:7577557-7577557	17:7674239-7674239
70	TP53	NM_001126112.2(TP53):c.96+15T>C	SNV	Conflicting interpretations of pathogenicity	379265	rs200053580	17:7579685-7579685	17:7676367-7676367
71	TP53	NM_001126112.2(TP53):c.1060C>A (p.Gln354Lys)	SNV	Uncertain significance	231485	rs755394212	17:7573967-7573967	17:7670649-7670649
72	TP53	NM_001126112.2(TP53):c.645T>G (p.Ser215Arg)	SNV	Uncertain significance	376661	rs1057520001	17:7578204-7578204	17:7674886-7674886
73	TP53	NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn)	SNV	Uncertain significance	376684	rs1057520008	17:7578236-7578236	17:7674918-7674918
74	TP53	NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp)	SNV	Uncertain significance	376686	rs1057520008	17:7578236-7578236	17:7674918-7674918
75	TP53	NM_001126112.2(TP53):c.*327C>T	SNV	Uncertain significance	325641	rs886053512	17:7572600-7572600	17:7669282-7669282
76	TP53 , WRAP53	NM_001126112.2(TP53):c.-91C>T	SNV	Uncertain significance	325645	rs886053515	17:7590760-7590760	17:7687442-7687442
77	TP53	NM_001126112.2(TP53):c.*626C>T	SNV	Uncertain significance	325632	rs886053506	17:7572301-7572301	17:7668983-7668983
78	TP53 , WRAP53	NM_001126112.2(TP53):c.-99C>G	SNV	Uncertain significance	325646	rs886053516	17:7590768-7590768	17:7687450-7687450
79	TP53	NM_001126112.2(TP53):c.*1160T>G	SNV	Uncertain significance	325619	rs886053499	17:7571767-7571767	17:7668449-7668449
80	TP53	NM_001126112.2(TP53):c.760A>G (p.Ile254Val)	SNV	Uncertain significance	406605	rs746601313	17:7577521-7577521	17:7674203-7674203
81	TP53	NM_001126112.2(TP53):c.1151T>C (p.Met384Thr)	SNV	Uncertain significance	406575	rs1060501196	17:7572958-7572958	17:7669640-7669640
82	TP53	NM_001126112.2(TP53):c.399G>A (p.Met133Ile)	SNV	Uncertain significance	421437	rs1064795139	17:7578531-7578531	17:7675213-7675213
83	TP53	NM_001126112.2(TP53):c.776A>T (p.Asp259Val)	SNV	Uncertain significance	485034	rs745425759	17:7577505-7577505	17:7674187-7674187
84	TP53	NM_000546.6(TP53):c.*1132C>T	SNV	Uncertain significance	889286		17:7571795-7571795	17:7668477-7668477
85	TP53	NM_000546.6(TP53):c.*761T>C	SNV	Uncertain significance	889967		17:7572166-7572166	17:7668848-7668848
86	TP53	NM_000546.6(TP53):c.*760T>C	SNV	Uncertain significance	889968		17:7572167-7572167	17:7668849-7668849
87	TP53	NM_000546.6(TP53):c.*168C>T	SNV	Uncertain significance	891535		17:7572759-7572759	17:7669441-7669441
88	TP53	NM_000546.6(TP53):c.*144G>A	SNV	Uncertain significance	891780		17:7572783-7572783	17:7669465-7669465
89	TP53	NM_000546.6(TP53):c.-22G>A	SNV	Uncertain significance	890038		17:7579934-7579934	17:7676616-7676616
90	TP53	NM_000546.6(TP53):c.-123C>T	SNV	Uncertain significance	891589		17:7590789-7590789	17:7687471-7687471
91	TP53	NM_001126112.2(TP53):c.329G>A (p.Arg110His)	SNV	Uncertain significance	127808	rs11540654	17:7579358-7579358	17:7676040-7676040
92	TP53	NM_001126112.2(TP53):c.572C>G (p.Pro191Arg)	SNV	Uncertain significance	127816	rs587778718	17:7578277-7578277	17:7674959-7674959
93	TP53	NM_001126112.2(TP53):c.800G>A (p.Arg267Gln)	SNV	Uncertain significance	127823	rs587780075	17:7577138-7577138	17:7673820-7673820
94	TP53	NM_000546.6(TP53):c.847C>T (p.Arg283Cys)	SNV	Uncertain significance	127824	rs149633775	17:7577091-7577091	17:7673773-7673773
95	TP53	NM_001126112.2(TP53):c.1135C>A (p.Arg379Ser)	SNV	Uncertain significance	186762	rs749061599	17:7572974-7572974	17:7669656-7669656
96	TP53	NM_001126112.2(TP53):c.149T>C (p.Ile50Thr)	SNV	Uncertain significance	216464	rs370502517	17:7579538-7579538	17:7676220-7676220
97	TP53	NM_001126112.2(TP53):c.461G>A (p.Gly154Asp)	SNV	Uncertain significance	237950	rs762846821	17:7578469-7578469	17:7675151-7675151
98	TP53	NM_001126112.2(TP53):c.11C>T (p.Pro4Leu)	SNV	Uncertain significance	237941	rs878854064	17:7579902-7579902	17:7676584-7676584
99	TP53	NM_001126112.2(TP53):c.1136G>A (p.Arg379His)	SNV	Uncertain significance	246221	rs863224682	17:7572973-7572973	17:7669655-7669655
100	TP53	NM_001126112.2(TP53):c.283_285TCT[1] (p.Ser96del)	short repeat	Uncertain significance	237946	rs878854068	17:7579399-7579401	17:7676081-7676083
101	TP53	NM_001126112.2(TP53):c.509C>T (p.Thr170Met)	SNV	Uncertain significance	184014	rs779000871	17:7578421-7578421	17:7675103-7675103
102	TP53	NM_001126112.2(TP53):c.*790G>A	SNV	Uncertain significance	325625	rs886053502	17:7572137-7572137	17:7668819-7668819
103	TP53	NM_001126112.2(TP53):c.*754C>T	SNV	Uncertain significance	325629	rs199729221	17:7572173-7572173	17:7668855-7668855
104	TP53	NM_001126112.2(TP53):c.*99G>A	SNV	Uncertain significance	325643	rs886053513	17:7572828-7572828	17:7669510-7669510
105	TP53	NM_001126112.2(TP53):c.877G>T (p.Gly293Trp)	SNV	Uncertain significance	127826	rs587780076	17:7577061-7577061	17:7673743-7673743
106	TP53	NM_001126112.2(TP53):c.250G>A (p.Ala84Thr)	SNV	Uncertain significance	140833	rs587781307	17:7579437-7579437	17:7676119-7676119
107	TP53	NM_001126112.2(TP53):c.145G>C (p.Asp49His)	SNV	Uncertain significance	135948	rs587780728	17:7579542-7579542	17:7676224-7676224
108	TP53	NM_001126112.2(TP53):c.998G>A (p.Arg333His)	SNV	Uncertain significance	142273	rs573154688	17:7574029-7574029	17:7670711-7670711
109	TP53	NM_001126112.2(TP53):c.554G>A (p.Ser185Asn)	SNV	Uncertain significance	141359	rs150607408	17:7578376-7578376	17:7675058-7675058
110	TP53	NM_001126112.2(TP53):c.1000G>C (p.Gly334Arg)	SNV	Uncertain significance	182969	rs730882028	17:7574027-7574027	17:7670709-7670709
111	TP53	NM_001126112.2(TP53):c.214_215delinsTG (p.Pro72Cys)	indel	Uncertain significance	182953	rs730882014	17:7579472-7579473	17:7676154-7676155
112	TP53	NM_001126112.2(TP53):c.188C>T (p.Ala63Val)	SNV	Uncertain significance	182922	rs372201428	17:7579499-7579499	17:7676181-7676181
113	TP53	NM_001126112.2(TP53):c.214C>G (p.Pro72Ala)	SNV	Uncertain significance	142854	rs587782769	17:7579473-7579473	17:7676155-7676155
114	TP53	NM_001126112.2(TP53):c.171C>A (p.Asp57Glu)	SNV	Uncertain significance	142863	rs587782776	17:7579516-7579516	17:7676198-7676198
115	TP53	NM_001126112.2(TP53):c.322_324del (p.Gly108del)	deletion	Uncertain significance	156516	rs587783063	17:7579363-7579365	17:7676045-7676047
116	TP53	NM_001126112.2(TP53):c.1165G>T (p.Gly389Trp)	SNV	Uncertain significance	156517	rs587783064	17:7572944-7572944	17:7669626-7669626
117	TP53	NM_001126112.2(TP53):c.892G>A (p.Glu298Lys)	SNV	Likely benign	141483	rs201744589	17:7577046-7577046	17:7673728-7673728
118	TP53	NM_001126112.2(TP53):c.1079G>C (p.Gly360Ala)	SNV	Likely benign	142003	rs35993958	17:7573948-7573948	17:7670630-7670630
119	TP53	NM_001126112.2(TP53):c.408A>G (p.Gln136=)	SNV	Likely benign	185409	rs758781593	17:7578522-7578522	17:7675204-7675204
120	TP53	NM_001126112.2(TP53):c.1023C>T (p.Phe341=)	SNV	Likely benign	220073	rs864622369	17:7574004-7574004	17:7670686-7670686
121	TP53	NM_001126112.2(TP53):c.768A>G (p.Thr256=)	SNV	Likely benign	187222	rs786203563	17:7577513-7577513	17:7674195-7674195
122	TP53	NM_001126112.2(TP53):c.1149C>T (p.Leu383=)	SNV	Likely benign	183740	rs373710656	17:7572960-7572960	17:7669642-7669642
123	TP53	NM_001126112.2(TP53):c.255T>C (p.Pro85=)	SNV	Likely benign	184097	rs775515332	17:7579432-7579432	17:7676114-7676114
124	TP53	NM_001126112.2(TP53):c.249G>A (p.Ala83=)	SNV	Likely benign	186003	rs55754907	17:7579438-7579438	17:7676120-7676120
125	TP53	NM_001126112.2(TP53):c.234A>G (p.Ala78=)	SNV	Likely benign	183835	rs375099397	17:7579453-7579453	17:7676135-7676135
126	TP53	NM_001126112.2(TP53):c.222C>T (p.Ala74=)	SNV	Likely benign	184625	rs786201577	17:7579465-7579465	17:7676147-7676147
127	TP53	NM_001126112.2(TP53):c.180A>C (p.Pro60=)	SNV	Likely benign	185834	rs749289195	17:7579507-7579507	17:7676189-7676189
128	TP53	NM_001126112.2(TP53):c.145G>A (p.Asp49Asn)	SNV	Likely benign	186363	rs587780728	17:7579542-7579542	17:7676224-7676224
129	TP53	NM_001126112.2(TP53):c.30C>T (p.Val10=)	SNV	Likely benign	183952	rs568171603	17:7579883-7579883	17:7676565-7676565
130	TP53	NM_000546.6(TP53):c.28G>A (p.Val10Ile)	SNV	Likely benign	127806	rs535274413	17:7579885-7579885	17:7676567-7676567
131	TP53	NM_000546.6(TP53):c.1093C>T (p.His365Tyr)	SNV	Likely benign	80708	rs267605075	17:7573934-7573934	17:7670616-7670616
132	TP53	NM_000546.6(TP53):c.*409C>A	SNV	Likely benign	891532		17:7572518-7572518	17:7669200-7669200
133	TP53	NM_000546.6(TP53):c.*357T>C	SNV	Likely benign	891533		17:7572570-7572570	17:7669252-7669252
134	TP53	NM_001126113.2(TP53):c.1015T>C (p.Cys339Arg)	SNV	Likely benign	492646	rs1642789	17:7576563-7576563	17:7673245-7673245
135	TP53	NM_001126112.2(TP53):c.672+15T>C	SNV	Likely benign	492583	rs140756213	17:7578162-7578162	17:7674844-7674844
136	TP53	NM_001126113.2(TP53):c.1034_1036CGT[1] (p.Ser346del)	short repeat	Likely benign	548873	rs1555524872	17:7576539-7576541	17:7673221-7673223
137	TP53	NM_001126112.2(TP53):c.783-13C>G	SNV	Likely benign	548875	rs1555525373	17:7577168-7577168	17:7673850-7673850
138	TP53	NM_001126112.2(TP53):c.97-15T>C	SNV	Likely benign	548898	rs1555526843	17:7579605-7579605	17:7676287-7676287
139	TP53	NM_001126112.2(TP53):c.18A>G (p.Ser6=)	SNV	Likely benign	414037	rs573130482	17:7579895-7579895	17:7676577-7676577
140	TP53	NM_001126112.2(TP53):c.993+244G>A	SNV	Likely benign	371863	rs576532147	17:7576609-7576609	17:7673291-7673291
141	TP53	NM_001126112.2(TP53):c.993+234G>A	SNV	Likely benign	371962	rs17883348	17:7576619-7576619	17:7673301-7673301
142	TP53	NM_001126114.2(TP53):c.1025A>C (p.Ter342Ser)	SNV	Likely benign	372008	rs764562217	17:7576626-7576626	17:7673308-7673308
143	TP53	NM_001126112.2(TP53):c.*936A>G	SNV	Likely benign	325622	rs55817367	17:7571991-7571991	17:7668673-7668673
144	TP53	NM_001126112.2(TP53):c.376-18dup	duplication	Likely benign	372074	rs756417643	17:7578571-7578572	17:7675253-7675254
145	TP53	NM_001126112.2(TP53):c.375+17G>A	SNV	Likely benign	372058	rs765179201	17:7579295-7579295	17:7675977-7675977
146	TP53	NM_001126112.2(TP53):c.97-28T>A	SNV	Likely benign	371934	rs200989844	17:7579618-7579618	17:7676300-7676300
147	TP53	NM_001126112.2(TP53):c.74+14T>C	SNV	Benign/Likely benign	372044	rs184743157	17:7579825-7579825	17:7676507-7676507
148	TP53	NM_001126112.2(TP53):c.993+12T>C	SNV	Benign/Likely benign	93325	rs1800899	17:7576841-7576841	17:7673523-7673523
149	TP53	NM_000546.6(TP53):c.885T>C (p.Pro295=)	SNV	Benign/Likely benign	132754	rs200073907	17:7577053-7577053	17:7673735-7673735
150	TP53	NM_001126112.2(TP53):c.666G>T (p.Pro222=)	SNV	Benign/Likely benign	132972	rs72661118	17:7578183-7578183	17:7674865-7674865
151	TP53	NM_001126112.2(TP53):c.6G>A (p.Glu2=)	SNV	Benign/Likely benign	183836	rs143458271	17:7579907-7579907	17:7676589-7676589
152	TP53	NM_001126114.2(TP53):c.1021T>G (p.Cys341Gly)	SNV	Benign/Likely benign	135361	rs3021068	17:7576630-7576630	17:7673312-7673312
153	TP53	NM_001126112.2(TP53):c.1014C>T (p.Phe338=)	SNV	Benign/Likely benign	182952	rs150293825	17:7574013-7574013	17:7670695-7670695
154	TP53	NM_001126112.2(TP53):c.994-17C>T	SNV	Benign/Likely benign	182951	rs368691910	17:7574050-7574050	17:7670732-7670732
155	TP53	NM_001126112.2(TP53):c.993+326_993+341del	deletion	Benign/Likely benign	182950	rs730882013	17:7576512-7576527	17:7673194-7673209
156	TP53	NM_001126112.2(TP53):c.672+18G>C	SNV	Benign/Likely benign	182947	rs199578278	17:7578159-7578159	17:7674841-7674841
157	TP53	NM_000546.5(TP53):c.319T>C (p.Tyr107His)	SNV	Benign	140786	rs368771578	17:7579368-7579368	17:7676050-7676050
158	TP53	NM_000546.6(TP53):c.935C>G (p.Thr312Ser)	SNV	Benign	141102	rs145151284	17:7576911-7576911	17:7673593-7673593
159	TP53	NM_001126112.2(TP53):c.97-6C>T	SNV	Benign	220942	rs35117667	17:7579596-7579596	17:7676278-7676278
160	TP53	NM_001126112.2(TP53):c.673-36G>C	SNV	Benign	221184	rs17880604	17:7577644-7577644	17:7674326-7674326
161	TP53	NM_001126112.2(TP53):c.*485G>A	SNV	Benign	325637	rs4968187	17:7572442-7572442	17:7669124-7669124
162	TP53	NM_001126112.2(TP53):c.*826G>A	SNV	Benign	325623	rs17884306	17:7572101-7572101	17:7668783-7668783
163	TP53	NM_001126112.2(TP53):c.*773C>T	SNV	Benign	325627	rs200378797	17:7572154-7572154	17:7668836-7668836
164	TP53	NM_001126112.2(TP53):c.*613C>A	SNV	Benign	325633	rs17879353	17:7572314-7572314	17:7668996-7668996
165	TP53	NM_001126112.2(TP53):c.108G>A (p.Pro36=)	SNV	Benign	132708	rs1800370	17:7579579-7579579	17:7676261-7676261
166	TP53	NM_000546.6(TP53):c.869G>A (p.Arg290His)	SNV	Benign	127825	rs55819519	17:7577069-7577069	17:7673751-7673751
167	TP53	NM_001126112.2(TP53):c.704A>G (p.Asn235Ser)	SNV	Benign	127821	rs144340710	17:7577577-7577577	17:7674259-7674259
168	TP53	NM_000546.6(TP53):c.639A>G (p.Arg213=)	SNV	Benign	43591	rs1800372	17:7578210-7578210	17:7674892-7674892
169	TP53	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	SNV	Benign	43588	rs1800371	17:7579548-7579548	17:7676230-7676230
170	TP53	NM_000546.6(TP53):c.*328G>A	SNV	Benign	891534		17:7572599-7572599	17:7669281-7669281
171	TP53	NM_001126112.2(TP53):c.*205G>A	SNV	Benign	325642	rs16956880	17:7572722-7572722	17:7669404-7669404
172	TP53	NM_001126112.2(TP53):c.*1070C>T	SNV	Benign	325620	rs114831472	17:7571857-7571857	17:7668539-7668539

Sources

Expression for Li-Fraumeni Syndrome 1

Search GEO for disease gene expression data for Li-Fraumeni Syndrome 1.

Sources

Pathways for Li-Fraumeni Syndrome 1

Pathways related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

(showing 6, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Human T-cell leukemia virus 1 infection ³⁶	11.67	TP53 SLC25A5 CHEK2
2	Cellular senescence (KEGG) ³⁶	11.32	TP53 SLC25A5 CHEK2
3	Integrated Cancer Pathway ¹	11.03	TP53 CHEK2
4	Cell cycle Role of 14-3-3 proteins in cell cycle regulation ²² Show member pathways 14-3-3 and Cell Cycle Regulation ⁶³	10.97	TP53 CHEK2
5	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	10.9	TP53 CHEK2
6	PLK3 signaling events ¹	9.32	TP53 CHEK2

Sources

GO Terms for Li-Fraumeni Syndrome 1

Biological processes related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

(showing 5, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to gamma radiation	GO:0071480	9.32	TP53 CHEK2
2	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	GO:0042771	9.26	TP53 CHEK2
3	response to gamma radiation	GO:0010332	9.16	TP53 CHEK2
4	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	8.96	TP53 CHEK2
5	replicative senescence	GO:0090399	8.62	TP53 CHEK2

Molecular functions related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

(showing 1, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	ubiquitin protein ligase binding	GO:0031625	8.92	WRAP53 TP53 SLC25A5 CHEK2

Sources

Sources for Li-Fraumeni Syndrome 1

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Li-Fraumeni Syndrome 1 (LFS1)

Aliases & Classifications for Li-Fraumeni Syndrome 1

MalaCards integrated aliases for Li-Fraumeni Syndrome 1:

Classifications:

External Ids:

Summaries for Li-Fraumeni Syndrome 1

Related Diseases for Li-Fraumeni Syndrome 1

Diseases in the Li-Fraumeni Syndrome family:

Diseases related to Li-Fraumeni Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 1:

Symptoms & Phenotypes for Li-Fraumeni Syndrome 1

Drugs & Therapeutics for Li-Fraumeni Syndrome 1

Genetic Tests for Li-Fraumeni Syndrome 1

Genetic tests related to Li-Fraumeni Syndrome 1:

Anatomical Context for Li-Fraumeni Syndrome 1

Publications for Li-Fraumeni Syndrome 1

Articles related to Li-Fraumeni Syndrome 1:

Genes for Li-Fraumeni Syndrome 1

Genes related to Li-Fraumeni Syndrome 1 (1 elite genes):

Variations for Li-Fraumeni Syndrome 1

ClinVar genetic disease variations for Li-Fraumeni Syndrome 1:

Expression for Li-Fraumeni Syndrome 1

Pathways for Li-Fraumeni Syndrome 1

Pathways related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Li-Fraumeni Syndrome 1

Biological processes related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Li-Fraumeni Syndrome 1