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TG c.4795C>T ;(p.P1599S)
Variant ID: 8-133941416-C-T
NM_003235.4(
TG
):c.4795C>T;(p.P1599S)
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: 4795C>T
PubMed Link:
21158681
Variant Present in the following documents:
Main text
View BVdb publication page