CFTR c.865_867delinsTGT ;(p.R289C)

Variant ID: 7-117176723-AGA-TGT

NM_000492.3(CFTR):c.865_867delinsTGT;(p.R289C)

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:

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

American Journal Of Human Genetics
Zhao, F F; Weismann, C G CG; Satoda, M M; Pierpont, M E ME; Sweeney, E E; Thompson, E M EM; Gelb, B D BD
Publication Date: 2001-10

Variant appearance in text: CFTR: R289C
PubMed Link: 11505339
Variant Present in the following documents:
  • Main text
View BVdb publication page