CFTR c.1653T>G ;(p.G551=)

Variant ID: 7-117227861-T-G

NM_000492.3(CFTR):c.1653T>G;(p.G551=)

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:

Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the Continuity of Care Record standard.

Journal Of Biomedical Informatics
Jing, Xia X; Kay, Stephen S; Marley, Thomas T; Hardiker, Nicholas R NR; Cimino, James J JJ
Publication Date: 2012-02

Variant appearance in text: CFTR: G551G
PubMed Link: 21946299
Variant Present in the following documents:
  • Main text
View BVdb publication page