GC c.965dup ;(p.L323Afs*14)

Variant ID: 4-72622497-C-CT

NM_000583.3(GC):c.965dup;(p.L323Afs*14)

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:

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wright, Caroline F CF; Eberhardt, Ruth Y RY; Constantinou, Panayiotis P; Hurles, Matthew E ME; FitzPatrick, David R DR; Firth, Helen V HV; ,
Publication Date: 2021-03

Variant appearance in text: GC: 965dup
PubMed Link: 33149276
Variant Present in the following documents:
  • 41436_2020_1021_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page