LFS1
MCID: LFR009
MIFTS: 26

Li-Fraumeni Syndrome 1 (LFS1)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

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:



External Ids:

Disease Ontology 12 DOID:0111503

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).

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:



Diseases related to Li-Fraumeni Syndrome 1

Symptoms & Phenotypes for Li-Fraumeni Syndrome 1

Drugs & Therapeutics for Li-Fraumeni Syndrome 1

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

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

Anatomical Context for Li-Fraumeni Syndrome 1

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
20213384 2009

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 257deletion Pathogenic 12373
14 TP53 TP53, 11-BP DEL/5-BP INSindel 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>TSNV 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>ASNV 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>ASNV 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>CSNV Conflicting interpretations of pathogenicity 182949 rs369599972 17:7576840-7576840 17:7673522-7673522
46 TP53 NM_001126112.2(TP53):c.782+12C>TSNV 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>TSNV 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>CSNV 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>ASNV Conflicting interpretations of pathogenicity 414029 rs1060504163 17:7576845-7576845 17:7673527-7673527
67 TP53 NM_001126112.2(TP53):c.673-37C>TSNV Conflicting interpretations of pathogenicity 371964 rs374907737 17:7577645-7577645 17:7674327-7674327
68 TP53 NM_001126112.2(TP53):c.74+9A>CSNV 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>CSNV 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>TSNV Uncertain significance 325641 rs886053512 17:7572600-7572600 17:7669282-7669282
76 TP53 , WRAP53 NM_001126112.2(TP53):c.-91C>TSNV Uncertain significance 325645 rs886053515 17:7590760-7590760 17:7687442-7687442
77 TP53 NM_001126112.2(TP53):c.*626C>TSNV Uncertain significance 325632 rs886053506 17:7572301-7572301 17:7668983-7668983
78 TP53 , WRAP53 NM_001126112.2(TP53):c.-99C>GSNV Uncertain significance 325646 rs886053516 17:7590768-7590768 17:7687450-7687450
79 TP53 NM_001126112.2(TP53):c.*1160T>GSNV 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>TSNV Uncertain significance 889286 17:7571795-7571795 17:7668477-7668477
85 TP53 NM_000546.6(TP53):c.*761T>CSNV Uncertain significance 889967 17:7572166-7572166 17:7668848-7668848
86 TP53 NM_000546.6(TP53):c.*760T>CSNV Uncertain significance 889968 17:7572167-7572167 17:7668849-7668849
87 TP53 NM_000546.6(TP53):c.*168C>TSNV Uncertain significance 891535 17:7572759-7572759 17:7669441-7669441
88 TP53 NM_000546.6(TP53):c.*144G>ASNV Uncertain significance 891780 17:7572783-7572783 17:7669465-7669465
89 TP53 NM_000546.6(TP53):c.-22G>ASNV Uncertain significance 890038 17:7579934-7579934 17:7676616-7676616
90 TP53 NM_000546.6(TP53):c.-123C>TSNV 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>ASNV Uncertain significance 325625 rs886053502 17:7572137-7572137 17:7668819-7668819
103 TP53 NM_001126112.2(TP53):c.*754C>TSNV Uncertain significance 325629 rs199729221 17:7572173-7572173 17:7668855-7668855
104 TP53 NM_001126112.2(TP53):c.*99G>ASNV 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>ASNV Likely benign 891532 17:7572518-7572518 17:7669200-7669200
133 TP53 NM_000546.6(TP53):c.*357T>CSNV 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>CSNV 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>GSNV Likely benign 548875 rs1555525373 17:7577168-7577168 17:7673850-7673850
138 TP53 NM_001126112.2(TP53):c.97-15T>CSNV 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>ASNV Likely benign 371863 rs576532147 17:7576609-7576609 17:7673291-7673291
141 TP53 NM_001126112.2(TP53):c.993+234G>ASNV 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>GSNV Likely benign 325622 rs55817367 17:7571991-7571991 17:7668673-7668673
144 TP53 NM_001126112.2(TP53):c.376-18dupduplication Likely benign 372074 rs756417643 17:7578571-7578572 17:7675253-7675254
145 TP53 NM_001126112.2(TP53):c.375+17G>ASNV Likely benign 372058 rs765179201 17:7579295-7579295 17:7675977-7675977
146 TP53 NM_001126112.2(TP53):c.97-28T>ASNV Likely benign 371934 rs200989844 17:7579618-7579618 17:7676300-7676300
147 TP53 NM_001126112.2(TP53):c.74+14T>CSNV Benign/Likely benign 372044 rs184743157 17:7579825-7579825 17:7676507-7676507
148 TP53 NM_001126112.2(TP53):c.993+12T>CSNV 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>TSNV Benign/Likely benign 182951 rs368691910 17:7574050-7574050 17:7670732-7670732
155 TP53 NM_001126112.2(TP53):c.993+326_993+341deldeletion Benign/Likely benign 182950 rs730882013 17:7576512-7576527 17:7673194-7673209
156 TP53 NM_001126112.2(TP53):c.672+18G>CSNV 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>TSNV Benign 220942 rs35117667 17:7579596-7579596 17:7676278-7676278
160 TP53 NM_001126112.2(TP53):c.673-36G>CSNV Benign 221184 rs17880604 17:7577644-7577644 17:7674326-7674326
161 TP53 NM_001126112.2(TP53):c.*485G>ASNV Benign 325637 rs4968187 17:7572442-7572442 17:7669124-7669124
162 TP53 NM_001126112.2(TP53):c.*826G>ASNV Benign 325623 rs17884306 17:7572101-7572101 17:7668783-7668783
163 TP53 NM_001126112.2(TP53):c.*773C>TSNV Benign 325627 rs200378797 17:7572154-7572154 17:7668836-7668836
164 TP53 NM_001126112.2(TP53):c.*613C>ASNV 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>ASNV Benign 891534 17:7572599-7572599 17:7669281-7669281
171 TP53 NM_001126112.2(TP53):c.*205G>ASNV Benign 325642 rs16956880 17:7572722-7572722 17:7669404-7669404
172 TP53 NM_001126112.2(TP53):c.*1070C>TSNV Benign 325620 rs114831472 17:7571857-7571857 17:7668539-7668539

Expression for Li-Fraumeni Syndrome 1

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

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 11.67 TP53 SLC25A5 CHEK2
2 11.32 TP53 SLC25A5 CHEK2
3 11.03 TP53 CHEK2
4
Show member pathways
10.97 TP53 CHEK2
5 10.9 TP53 CHEK2
6 9.32 TP53 CHEK2

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 for Li-Fraumeni Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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