CMM4
MCID: MLN074
MIFTS: 17

Melanoma, Cutaneous Malignant 4 (CMM4)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 4

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 4:

Name: Melanoma, Cutaneous Malignant 4 57
Melanoma, Cutaneous Malignant, 4 57 13
Melanoma, Cutaneous Malignant, Susceptibility to, 4 57
Cutaneous Malignant Melanoma 4 29
Cmm4 57

Classifications:



External Ids:

OMIM® 57 608035
OMIM Phenotypic Series 57 PS155600

Summaries for Melanoma, Cutaneous Malignant 4

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 (CMM), see 155600. (608035) (Updated 05-Apr-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 4, is also known as melanoma, cutaneous malignant, 4. An important gene associated with Melanoma, Cutaneous Malignant 4 is CMM4 (Melanoma, Cutaneous Malignant, 4).

Related Diseases for Melanoma, Cutaneous Malignant 4

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 4

Clinical features from OMIM®:

608035 (Updated 05-Apr-2021)

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 4

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 4

Genetic Tests for Melanoma, Cutaneous Malignant 4

Genetic tests related to Melanoma, Cutaneous Malignant 4:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 4 29

Anatomical Context for Melanoma, Cutaneous Malignant 4

Publications for Melanoma, Cutaneous Malignant 4

Articles related to Melanoma, Cutaneous Malignant 4:

# Title Authors PMID Year
1
Deletion mapping suggests that the 1p22 melanoma susceptibility gene is a tumor suppressor localized to a 9-Mb interval. 57
15236317 2004
2
Localization of a novel melanoma susceptibility locus to 1p22. 57
12844286 2003
3
Partial characterization of a basic protein from Crotalus molossus molossus (northern blacktail rattlesnake) venom and production of a monoclonal antibody. 61
11024493 2001

Variations for Melanoma, Cutaneous Malignant 4

Cosmic variations for Melanoma, Cutaneous Malignant 4:

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

Expression for Melanoma, Cutaneous Malignant 4

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 4.

Pathways for Melanoma, Cutaneous Malignant 4

GO Terms for Melanoma, Cutaneous Malignant 4

Sources for Melanoma, Cutaneous Malignant 4

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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