PDE11A c.1564C>T ;(p.H522Y)

Variant ID: 2-178684959-G-A

NM_016953.3(PDE11A):c.1564C>T;(p.H522Y)

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:

NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: PDE11A: H522Y
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
View BVdb publication page