CFTR c.949G>A ;(p.V317M)

Variant ID: 7-117180233-G-A

NM_000492.3(CFTR):c.949G>A;(p.V317M)

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:

Bestrophins and retinopathies.

Pflugers Archiv : European Journal Of Physiology
Xiao, Qinghuan Q; Hartzell, H Criss HC; Yu, Kuai K
Publication Date: 2010-07

Variant appearance in text: CFTR: V317M
PubMed Link: 20349192
Variant Present in the following documents:
  • Main text
View BVdb publication page