Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.861C>A ;(p.N287K)
Variant ID: 7-117176719-C-A
NM_000492.3(
CFTR
):c.861C>A;(p.N287K)
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 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: N287K
PubMed Link:
35313924
Variant Present in the following documents:
Main text
13023_2022_Article_2279.pdf
View BVdb publication page
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.
Andrology
de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S
Publication Date: 2018-01
Variant appearance in text: CFTR: N287K
PubMed Link:
29216686
Variant Present in the following documents:
Main text
View BVdb publication page