CFTR c.3721_3779del ;(p.G1241Tfs*4)

Variant ID: 7-117282495-GGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACT-G

NM_000492.3(CFTR):c.3721_3779del;(p.G1241Tfs*4)

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:

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases
De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A
Publication Date: 2017-08-22

Variant appearance in text: CFTR: Val1240_Gln1291del
PubMed Link: 28830496
Variant Present in the following documents:
  • Main text
View BVdb publication page