DisGeNET - a database of gene-disease associations

Metastatic melanoma, C0278883

Variant: rs993022333 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs993022333

rs993022333

KIT

0.010

GeneticVariation

BEFREE

We report a case of an 82-year-old female with metastatic melanoma who was found to have double KIT mutations at V559 and N822I.

2019