PIK3CA c.1943dup ;(p.L648Ffs*13)

Variant ID: 3-178937766-C-CT

NM_006218.2(PIK3CA):c.1943dup;(p.L648Ffs*13)

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:

Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.

Journal Of Diabetes Investigation
Yin, Xiaofei X; Liu, Jidong J; Feng, Ruiying R; Xu, Mingyue M; Liu, Jinbo J
Publication Date: 2021-10

Variant appearance in text: PI3K: 1943dupT
PubMed Link: 33742773
Variant Present in the following documents:
  • Main text
  • JDI-12-1919.pdf
View BVdb publication page