GAA c.2738C>T ;(p.P913L)

Variant ID: 17-78092543-C-T

NM_000152.3(GAA):c.2738C>T;(p.P913L)

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:

[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Yuan, Shan S; Jiang, Jie J; Zha, Lu-Ting LT; Yang, Zuo-Cheng ZC
Publication Date: 2017-10

Variant appearance in text: GAA: 2738C>T
PubMed Link: 29046207
Variant Present in the following documents:
  • Main text
View BVdb publication page