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COL7A1 c.7596G>T ;(p.R2532=)
Variant ID: 3-48607043-C-A
NM_000094.3(
COL7A1
):c.7596G>T;(p.R2532=)
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:
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.
Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16
Variant appearance in text: COL7A1: R2532R
PubMed Link:
35706047
Variant Present in the following documents:
13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
The landscape of driver mutations in cutaneous squamous cell carcinoma.
Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16
Variant appearance in text: COL7A1: R2532R
PubMed Link:
34272401
Variant Present in the following documents:
41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page