CFTR c.254G>C ;(p.G85A)

Variant ID: 7-117149177-G-C

NM_000492.3(CFTR):c.254G>C;(p.G85A)

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:

Alteration of CFTR transmembrane span integration by disease-causing mutations.

Molecular Biology Of The Cell
Patrick, Anna E AE; Karamyshev, Andrey L AL; Millen, Linda L; Thomas, Philip J PJ
Publication Date: 2011-12

Variant appearance in text: CFTR: G85A
PubMed Link: 21998193
Variant Present in the following documents:
  • Main text
  • 4461.pdf
  • supp_E11-05-0396_CombinedSupMats.pdf
View BVdb publication page