CFTR c.3985G>C ;(p.E1329Q)

Variant ID: 7-117304763-G-C

NM_000492.3(CFTR):c.3985G>C;(p.E1329Q)

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:

Molecular basis of cystic fibrosis disease: an Indian perspective.

Indian Journal Of Clinical Biochemistry : Ijcb
Prasad, R R; Sharma, H H; Kaur, G G
Publication Date: 2010-10

Variant appearance in text: CFTR: E1329Q
PubMed Link: 21966101
Variant Present in the following documents:
  • Main text
View BVdb publication page