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KIT c.91C>A ;(p.P31T)
Variant ID: 4-55561701-C-A
NM_000222.2(
KIT
):c.91C>A;(p.P31T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic review and meta-analysis of genomic alterations in acral melanoma.
Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05
Variant appearance in text: KIT: 91C>A; Pro31Thr
PubMed Link:
35229492
Variant Present in the following documents:
PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page
Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.
Immunology
Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ
Publication Date: 2012-11
Variant appearance in text: KIT: P31T
PubMed Link:
22957768
Variant Present in the following documents:
Main text
View BVdb publication page