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CFTR c.3469-20T>C
Variant ID: 7-117267556-T-C
NM_000492.3(
CFTR
):c.3469-20T>C
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:
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Nature
,
Publication Date: 2019-12
Variant appearance in text: CFTR: 3469-20T>C; rs373002889
PubMed Link:
31802016
Variant Present in the following documents:
41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW
Publication Date: 2017-12
Variant appearance in text: rs373002889
PubMed Link:
28471432
Variant Present in the following documents:
Main text
gim201750a.pdf
gim201750x2.xlsx, sheet 2
View BVdb publication page