PDE11A c.1474T>C ;(p.Y492H)

Variant ID: 2-178705004-A-G

NM_016953.3(PDE11A):c.1474T>C;(p.Y492H)

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:

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics
Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J
Publication Date: 2021-05-28

Variant appearance in text: PDE11A: 1474T>C; Y492H
PubMed Link: 33835157
Variant Present in the following documents:
  • supplementary_tables_ddab090.xlsx, sheet 3
  • supplementary_tables_ddab090.xlsx, sheet 2
View BVdb publication page