CMM6
MCID: MLN042
MIFTS: 22

Melanoma, Cutaneous Malignant 6 (CMM6)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 6

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 6:

Name: Melanoma, Cutaneous Malignant 6 57 72
Cutaneous Malignant Melanoma 6 72 29 6
Melanoma, Cutaneous Malignant, 6 57 13
Cmm6 57 72
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 6 39
Melanoma, Cutaneous Malignant, Susceptibility to, 6 57

Classifications:



External Ids:

OMIM® 57 613972
OMIM Phenotypic Series 57 PS155600
MeSH 44 D008545
MedGen 41 C3151417

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) (Updated 05-Apr-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 6, also known as cutaneous malignant melanoma 6, is related to melanoma, cutaneous malignant 1. An important gene associated with Melanoma, Cutaneous Malignant 6 is XRCC3 (X-Ray Repair Cross Complementing 3). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Melanoma, Cutaneous Malignant 1 family:

Melanoma, Cutaneous Malignant 2 Melanoma, Cutaneous Malignant 4
Melanoma, Cutaneous Malignant 3 Melanoma, Cutaneous Malignant 7
Melanoma, Cutaneous Malignant 5 Melanoma, Cutaneous Malignant 6
Melanoma, Cutaneous Malignant 8 Melanoma, Cutaneous Malignant 9
Melanoma, Cutaneous Malignant 10

Diseases related to Melanoma, Cutaneous Malignant 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 melanoma, cutaneous malignant 1 9.5 XRCC3 KLC1

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 6

Clinical features from OMIM®:

613972 (Updated 05-Apr-2021)

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:

40
Skin

Publications for Melanoma, Cutaneous Malignant 6

Articles related to Melanoma, Cutaneous Malignant 6:

# Title Authors PMID Year
1
A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. 57 6
11059748 2000
2
First Report of Bacterial Canker of Tomato Caused by Clavibacter michiganensis subsp. michiganensis in Korea. 61
30769542 2008
3
Bacterial Canker Caused by Clavibacter michiganensis subsp. michiganensis on Tomato in the Baja California Peninsula of Mexico. 61
30780975 2006
4
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. 61
7980108 1994
5
A genetic study of the human low-voltage electroencephalogram. 61
1427795 1992
6
D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands. 61
1303209 1992
7
Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity. 61
1346390 1992

Variations for Melanoma, Cutaneous Malignant 6

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XRCC3 , KLC1 NM_005432.4(XRCC3):c.722C>T (p.Thr241Met) SNV risk factor 8944 rs861539 GRCh37: 14:104165753-104165753
GRCh38: 14:103699416-103699416

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

72
# Symbol AA change Variation ID SNP ID
1 XRCC3 p.Thr241Met VAR_013006 rs861539

Cosmic variations for Melanoma, Cutaneous Malignant 6:

9 (show all 46)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107326 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 6
2 COSM93665204 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 6
3 COSM93539965 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 6
4 COSM93692305 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 6
5 COSM93519256 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 6
6 COSM88321369 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 6
7 COSM99100400 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
8 COSM99100596 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
9 COSM89609735 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
10 COSM135206415 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
11 COSM135217389 GRIN2A skin,ear,malignant melanoma,NS c.3773-19C>T p.? 16:9763447-9763447 6
12 COSM131440106 GRIN2A skin,ear,malignant melanoma,NS c.1548G>A p.M516I 16:9829471-9829471 6
13 COSM89609531 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
14 COSM135206628 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
15 COSM89621238 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 6
16 COSM99112008 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 6
17 COSM131447592 GRIN2A skin,ear,malignant melanoma,NS c.3362-19C>T p.? 16:9763447-9763447 6
18 COSM131440017 GRIN2A skin,ear,malignant melanoma,NS c.2806G>A p.E936K 16:9764327-9764327 6
19 COSM97223158 CNR1 skin,ear,malignant melanoma,NS c.103+42C>T p.? 6:88145130-88145130 6
20 COSM152018575 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
21 COSM108059286 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
22 COSM117327995 CNR1 skin,ear,malignant melanoma,NS c.63-17C>T p.? 6:88145130-88145130 6
23 COSM96983478 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
24 COSM96990932 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
25 COSM87493313 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 6
26 COSM144455643 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 6
27 COSM149414554 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 6
28 COSM150563774 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
29 COSM150564452 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 6
30 COSM88812698 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 6
31 COSM118795694 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 6
32 COSM88803061 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 6
33 COSM118813778 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 6
34 COSM88806346 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 6
35 COSM118790577 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 6
36 COSM150570620 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 6
37 COSM150565869 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 6
38 COSM118787231 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
39 COSM150585368 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 6
40 COSM149385292 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 6
41 COSM149386940 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 6
42 COSM149388933 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 6
43 COSM88834639 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 6
44 COSM118788384 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 6
45 COSM149394818 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 6
46 COSM88804430 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 6

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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