CFTR c.4054_4056delinsTGT ;(p.Q1352C)

Variant ID: 7-117304832-CAG-TGT

NM_000492.3(CFTR):c.4054_4056delinsTGT;(p.Q1352C)

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:

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees.

Molecular Genetics & Genomic Medicine
Yang, Bin B; Wang, Xi X; Zhang, Wei W; Li, Hongjun H; Wang, Binbin B
Publication Date: 2018-11

Variant appearance in text: CFTR: Gln1352Cys
PubMed Link: 30450785
Variant Present in the following documents:
  • Main text
  • MGG3-6-1097.pdf
View BVdb publication page