GAA c.1966G>T ;(p.E656*)

Variant ID: 17-78086752-G-T

NM_000152.3(GAA):c.1966G>T;(p.E656*)

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:

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.

Frontiers In Genetics
Kosinski, Przemyslaw P; Greczan, Milena M; Jezela-Stanek, Aleksandra A
Publication Date: 2021

Variant appearance in text: GAA: Glu656X
PubMed Link: 34163527
Variant Present in the following documents:
  • Main text
  • fgene-12-674722.pdf
View BVdb publication page