MCID: MLN055
MIFTS: 16

Melanoma, Cutaneous Malignant 10

Categories: Genetic diseases, Skin diseases, Rare diseases, Eye diseases, Cancer diseases, Nephrological diseases

Aliases & Classifications for Melanoma, Cutaneous Malignant 10

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 10:

Name: Melanoma, Cutaneous Malignant 10 57 75
Melanoma, Cutaneous Malignant, Susceptibility to, 10 57 29 6
Cmm10 57 75
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance


HPO:

32
melanoma, cutaneous malignant 10:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM 57 615848
MeSH 44 D008545
SNOMED-CT via HPO 69 263681008

Summaries for Melanoma, Cutaneous Malignant 10

UniProtKB/Swiss-Prot : 75 Melanoma, cutaneous malignant 10: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites.

MalaCards based summary : Melanoma, Cutaneous Malignant 10, is also known as melanoma, cutaneous malignant, susceptibility to, 10. An important gene associated with Melanoma, Cutaneous Malignant 10 is POT1 (Protection Of Telomeres 1). Affiliated tissues include skin.

Description from OMIM: 615848

Related Diseases for Melanoma, Cutaneous Malignant 10

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 10

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
cutaneous malignant melanoma
possibly increased risk for other cancers


Clinical features from OMIM:

615848

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 10

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 10

Genetic Tests for Melanoma, Cutaneous Malignant 10

Genetic tests related to Melanoma, Cutaneous Malignant 10:

# Genetic test Affiliating Genes
1 Melanoma, Cutaneous Malignant, Susceptibility to, 10 29 POT1

Anatomical Context for Melanoma, Cutaneous Malignant 10

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 10:

41
Skin

Publications for Melanoma, Cutaneous Malignant 10

Variations for Melanoma, Cutaneous Malignant 10

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 10:

75
# Symbol AA change Variation ID SNP ID
1 POT1 p.Tyr89Cys VAR_071390 rs587777472
2 POT1 p.Gln94Glu VAR_071391 rs587777474
3 POT1 p.Arg137His VAR_071392 rs587777475
4 POT1 p.Asp224Asn VAR_071393 rs202187871
5 POT1 p.Ser270Asn VAR_071394 rs587777477
6 POT1 p.Arg273Leu VAR_071395 rs587777476
7 POT1 p.Ala532Pro VAR_071396
8 POT1 p.Gln623His VAR_071397 rs587777478

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 10:

6
(show top 50) (show all 359)
# Gene Variation Type Significance SNP ID Assembly Location
1 POT1 NM_015450.2(POT1): c.266A> G (p.Tyr89Cys) single nucleotide variant risk factor rs587777472 GRCh37 Chromosome 7, 124503684: 124503684
2 POT1 NM_015450.2(POT1): c.266A> G (p.Tyr89Cys) single nucleotide variant risk factor rs587777472 GRCh38 Chromosome 7, 124863630: 124863630
3 POT1 NM_015450.2(POT1): c.1687-1G> A single nucleotide variant risk factor rs587777473 GRCh37 Chromosome 7, 124465412: 124465412
4 POT1 NM_015450.2(POT1): c.1687-1G> A single nucleotide variant risk factor rs587777473 GRCh38 Chromosome 7, 124825358: 124825358
5 POT1 NM_015450.2(POT1): c.280C> G (p.Gln94Glu) single nucleotide variant risk factor rs587777474 GRCh37 Chromosome 7, 124503670: 124503670
6 POT1 NM_015450.2(POT1): c.280C> G (p.Gln94Glu) single nucleotide variant risk factor rs587777474 GRCh38 Chromosome 7, 124863616: 124863616
7 POT1 NM_015450.2(POT1): c.410G> A (p.Arg137His) single nucleotide variant risk factor rs587777475 GRCh37 Chromosome 7, 124503540: 124503540
8 POT1 NM_015450.2(POT1): c.410G> A (p.Arg137His) single nucleotide variant risk factor rs587777475 GRCh38 Chromosome 7, 124863486: 124863486
9 POT1 NM_015450.2(POT1): c.818G> T (p.Arg273Leu) single nucleotide variant risk factor rs587777476 GRCh37 Chromosome 7, 124493077: 124493077
10 POT1 NM_015450.2(POT1): c.818G> T (p.Arg273Leu) single nucleotide variant risk factor rs587777476 GRCh38 Chromosome 7, 124853023: 124853023
11 POT1 NM_015450.2(POT1): c.809G> A (p.Ser270Asn) single nucleotide variant risk factor rs587777477 GRCh37 Chromosome 7, 124493086: 124493086
12 POT1 NM_015450.2(POT1): c.809G> A (p.Ser270Asn) single nucleotide variant risk factor rs587777477 GRCh38 Chromosome 7, 124853032: 124853032
13 POT1 NM_015450.2(POT1): c.1869G> C (p.Gln623His) single nucleotide variant risk factor rs587777478 GRCh37 Chromosome 7, 124464052: 124464052
14 POT1 NM_015450.2(POT1): c.1869G> C (p.Gln623His) single nucleotide variant risk factor rs587777478 GRCh38 Chromosome 7, 124823998: 124823998
15 POT1 NM_015450.2(POT1): c.283G> T (p.Gly95Cys) single nucleotide variant Uncertain significance rs797045168 GRCh37 Chromosome 7, 124503667: 124503667
16 POT1 NM_015450.2(POT1): c.283G> T (p.Gly95Cys) single nucleotide variant Uncertain significance rs797045168 GRCh38 Chromosome 7, 124863613: 124863613
17 POT1 NM_015450.2(POT1): c.1851_1852delTA (p.Asp617Glufs) deletion Uncertain significance rs758673417 GRCh37 Chromosome 7, 124464069: 124464070
18 POT1 NM_015450.2(POT1): c.1851_1852delTA (p.Asp617Glufs) deletion Uncertain significance rs758673417 GRCh38 Chromosome 7, 124824015: 124824016
19 POT1 NM_015450.2(POT1): c.1228G> C (p.Asp410His) single nucleotide variant Benign/Likely benign rs79314063 GRCh38 Chromosome 7, 124841114: 124841114
20 POT1 NM_015450.2(POT1): c.1228G> C (p.Asp410His) single nucleotide variant Benign/Likely benign rs79314063 GRCh37 Chromosome 7, 124481168: 124481168
21 POT1 NM_015450.2(POT1): c.314C> T (p.Thr105Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 124863582: 124863582
22 POT1 NM_015450.2(POT1): c.314C> T (p.Thr105Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 124503636: 124503636
23 POT1 NM_015450.2(POT1): c.64A> G (p.Ile22Val) single nucleotide variant Conflicting interpretations of pathogenicity rs375440229 GRCh38 Chromosome 7, 124892326: 124892326
24 POT1 NM_015450.2(POT1): c.64A> G (p.Ile22Val) single nucleotide variant Conflicting interpretations of pathogenicity rs375440229 GRCh37 Chromosome 7, 124532380: 124532380
25 POT1 NM_015450.2(POT1): c.1810G> A (p.Glu604Lys) single nucleotide variant Uncertain significance rs753762757 GRCh37 Chromosome 7, 124464111: 124464111
26 POT1 NM_015450.2(POT1): c.1810G> A (p.Glu604Lys) single nucleotide variant Uncertain significance rs753762757 GRCh38 Chromosome 7, 124824057: 124824057
27 POT1 NM_015450.2(POT1): c.1746T> C (p.Ser582=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 124825298: 124825298
28 POT1 NM_015450.2(POT1): c.1746T> C (p.Ser582=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 124465352: 124465352
29 POT1 NM_015450.2(POT1): c.1687-9A> G single nucleotide variant Likely benign rs776461827 GRCh37 Chromosome 7, 124465420: 124465420
30 POT1 NM_015450.2(POT1): c.1687-9A> G single nucleotide variant Likely benign rs776461827 GRCh38 Chromosome 7, 124825366: 124825366
31 POT1 NM_015450.2(POT1): c.1614C> T (p.Leu538=) single nucleotide variant Likely benign rs969018798 GRCh37 Chromosome 7, 124467340: 124467340
32 POT1 NM_015450.2(POT1): c.1614C> T (p.Leu538=) single nucleotide variant Likely benign rs969018798 GRCh38 Chromosome 7, 124827286: 124827286
33 POT1 NM_015450.2(POT1): c.1555G> A (p.Val519Ile) single nucleotide variant Uncertain significance rs776873207 GRCh37 Chromosome 7, 124469347: 124469347
34 POT1 NM_015450.2(POT1): c.1555G> A (p.Val519Ile) single nucleotide variant Uncertain significance rs776873207 GRCh38 Chromosome 7, 124829293: 124829293
35 POT1 NM_015450.2(POT1): c.1534A> G (p.Ile512Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 124469368: 124469368
36 POT1 NM_015450.2(POT1): c.1534A> G (p.Ile512Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 124829314: 124829314
37 POT1 NM_015450.2(POT1): c.1481T> A (p.Ile494Lys) single nucleotide variant Uncertain significance rs774858551 GRCh37 Chromosome 7, 124475357: 124475357
38 POT1 NM_015450.2(POT1): c.1481T> A (p.Ile494Lys) single nucleotide variant Uncertain significance rs774858551 GRCh38 Chromosome 7, 124835303: 124835303
39 POT1 NM_015450.2(POT1): c.1416T> G (p.Ser472Arg) single nucleotide variant Uncertain significance rs146643991 GRCh37 Chromosome 7, 124475422: 124475422
40 POT1 NM_015450.2(POT1): c.1416T> G (p.Ser472Arg) single nucleotide variant Uncertain significance rs146643991 GRCh38 Chromosome 7, 124835368: 124835368
41 POT1 NM_015450.2(POT1): c.1360T> C (p.Leu454=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 124481036: 124481036
42 POT1 NM_015450.2(POT1): c.1360T> C (p.Leu454=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 124840982: 124840982
43 POT1 NM_015450.2(POT1): c.1185C> T (p.Gly395=) single nucleotide variant Uncertain significance rs538385307 GRCh37 Chromosome 7, 124481211: 124481211
44 POT1 NM_015450.2(POT1): c.1185C> T (p.Gly395=) single nucleotide variant Uncertain significance rs538385307 GRCh38 Chromosome 7, 124841157: 124841157
45 POT1 NM_015450.2(POT1): c.1156C> A (p.His386Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 124482868: 124482868
46 POT1 NM_015450.2(POT1): c.1156C> A (p.His386Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 124842814: 124842814
47 POT1 NM_015450.2(POT1): c.1023G> A (p.Gln341=) single nucleotide variant Likely benign rs147003926 GRCh37 Chromosome 7, 124483001: 124483001
48 POT1 NM_015450.2(POT1): c.1023G> A (p.Gln341=) single nucleotide variant Likely benign rs147003926 GRCh38 Chromosome 7, 124842947: 124842947
49 POT1 NM_015450.2(POT1): c.986G> A (p.Cys329Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 124846962: 124846962
50 POT1 NM_015450.2(POT1): c.986G> A (p.Cys329Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 124487016: 124487016

Expression for Melanoma, Cutaneous Malignant 10

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 10.

Pathways for Melanoma, Cutaneous Malignant 10

GO Terms for Melanoma, Cutaneous Malignant 10

Sources for Melanoma, Cutaneous Malignant 10

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