HR c.2608C>T ;(p.Q870*)

Variant ID: 8-21978231-G-A

NM_005144.4(HR):c.2608C>T;(p.Q870*)

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:

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases
Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E
Publication Date: 2012-06-07

Variant appearance in text: HR: 2608C>T
PubMed Link: 22676651
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-35.pdf
View BVdb publication page