PTEN c.734del ;(p.Q245Rfs*11)

Variant ID: 10-89717709-CA-C

NM_000314.4(PTEN):c.734del;(p.Q245Rfs*11)

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:

Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mester, Jessica J; Eng, Charis C
Publication Date: 2012-09

Variant appearance in text: PTEN: 734del
PubMed Link: 22595938
Variant Present in the following documents:
  • Main text
View BVdb publication page