CFTR c.1645_1646delinsTT ;(p.S549F)

Variant ID: 7-117227853-AG-TT

NM_000492.3(CFTR):c.1645_1646delinsTT;(p.S549F)

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:

A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.

Science Signaling
Pankow, Sandra S; Bamberger, Casimir C; Yates, John R JR
Publication Date: 2019-01-01

Variant appearance in text: CFTR: S549F
PubMed Link: 30600261
Variant Present in the following documents:
  • Main text
View BVdb publication page