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CFTR c.215C>T ;(p.A72V)
Variant ID: 7-117149138-C-T
NM_000492.3(
CFTR
):c.215C>T;(p.A72V)
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: CFTR: A72V
PubMed Link:
35706047
Variant Present in the following documents:
13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21
Variant appearance in text: CFTR: 215C>T; A72V
PubMed Link:
35313924
Variant Present in the following documents:
13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page