PDE11A c.393C>T ;(p.I131=)

Variant ID: 2-178936772-G-A

NM_016953.3(PDE11A):c.393C>T;(p.I131=)

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:

Gastrointestinal polyps in McCune Albright syndrome.

Journal Of Medical Genetics
Zacharin, Margaret M; Bajpai, Anurag A; Chow, Chung Wo CW; Catto-Smith, Anthony A; Stratakis, Constantine C; Wong, Michelle W MW; Scott, Rodney R
Publication Date: 2011-07

Variant appearance in text: PDE11A: I131I
PubMed Link: 21357941
Variant Present in the following documents:
  • Main text
View BVdb publication page