GAA c.1036del ;(p.E346Sfs*46)

Variant ID: 17-78082169-AG-A

NM_000152.3(GAA):c.1036del;(p.E346Sfs*46)

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:

Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Turkish Journal Of Medical Sciences
Tuğ Bozdoğan, Sevcan S; Büyükkurt, Selim S; Özer, Sinem S; Bişgin, Atıl A
Publication Date: 2021-04-30

Variant appearance in text: GAA: 1036delG; E346Sfs
PubMed Link: 33197157
Variant Present in the following documents:
  • turkjmedsci-51-657-sup001.pdf
  • turkjmedsci-51-657.pdf
View BVdb publication page