PTEN c.913_914insT ;(p.S305Mfs*7)

Variant ID: 10-89720762-A-AT

NM_000314.4(PTEN):c.913_914insT;(p.S305Mfs*7)

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:

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Keppler-Noreuil, Kim M KM; Parker, Victoria E R VE; Darling, Thomas N TN; Martinez-Agosto, Julian A JA
Publication Date: 2016-12

Variant appearance in text: PTEN: 913_914insT
PubMed Link: 27860216
Variant Present in the following documents:
  • Main text
View BVdb publication page