MCID: MLN042
MIFTS: 15

Melanoma, Cutaneous Malignant 6

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 6

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 6:

Name: Melanoma, Cutaneous Malignant 6 57 75
Cutaneous Malignant Melanoma 6 75 29 6
Melanoma, Cutaneous Malignant, 6 57 13
Cmm6 57 75
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 6 40
Melanoma, Cutaneous Malignant, Susceptibility to, 6 57

Classifications:



External Ids:

OMIM 57 613972
MedGen 42 C3151417
MeSH 44 D008545

Summaries for Melanoma, Cutaneous Malignant 6

OMIM : 57 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see 155600. (613972)

MalaCards based summary : Melanoma, Cutaneous Malignant 6, is also known as cutaneous malignant melanoma 6. An important gene associated with Melanoma, Cutaneous Malignant 6 is XRCC3 (X-Ray Repair Cross Complementing 3). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot : 75 Melanoma, cutaneous malignant 6: 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.

Related Diseases for Melanoma, Cutaneous Malignant 6

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 6

Clinical features from OMIM:

613972

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 6

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 6

Genetic Tests for Melanoma, Cutaneous Malignant 6

Genetic tests related to Melanoma, Cutaneous Malignant 6:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 6 29 XRCC3

Anatomical Context for Melanoma, Cutaneous Malignant 6

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 6:

41
Skin, Eye

Publications for Melanoma, Cutaneous Malignant 6

Variations for Melanoma, Cutaneous Malignant 6

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 6:

75
# Symbol AA change Variation ID SNP ID
1 XRCC3 p.Thr241Met VAR_013006 rs861539

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 XRCC3 NM_001100119.1(XRCC3): c.722C> T (p.Thr241Met) single nucleotide variant risk factor rs861539 GRCh37 Chromosome 14, 104165753: 104165753
2 XRCC3 NM_001100119.1(XRCC3): c.722C> T (p.Thr241Met) single nucleotide variant risk factor rs861539 GRCh38 Chromosome 14, 103699416: 103699416

Cosmic variations for Melanoma, Cutaneous Malignant 6:

9
(show all 14)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 5
2 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 5
3 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 5
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 5
5 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 5
6 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 5
7 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 5
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 5
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 5
10 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 5
11 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 5
12 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 5
13 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 5
14 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 5

Expression for Melanoma, Cutaneous Malignant 6

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 6.

Pathways for Melanoma, Cutaneous Malignant 6

GO Terms for Melanoma, Cutaneous Malignant 6

Sources for Melanoma, Cutaneous Malignant 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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