TG c.3728dup ;(p.Q1244Afs*22)

Variant ID: 8-133919025-C-CA

NM_003235.4(TG):c.3728dup;(p.Q1244Afs*22)

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:

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Genetic Testing And Molecular Biomarkers
Bartels, Cynthia F CF; Scacheri, Cheryl C; White, Lashonda L; Scacheri, Peter C PC; Bale, Sherri S
Publication Date: 2010-12

Variant appearance in text: TG: 3728dupA
PubMed Link: 21158681
Variant Present in the following documents:
  • Main text
View BVdb publication page