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CFTR c.3586T>A ;(p.S1196T)
Variant ID: 7-117267693-T-A
NM_000492.3(
CFTR
):c.3586T>A;(p.S1196T)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08
Variant appearance in text: CFTR: S1196T
PubMed Link:
16049310
Variant Present in the following documents:
Main text
View BVdb publication page