PTEN c.883dup ;(p.L295Pfs*3)

Variant ID: 10-89720731-T-TC

NM_000314.4(PTEN):c.883dup;(p.L295Pfs*3)

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:

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases
Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB
Publication Date: 2017-07-04

Variant appearance in text: PTEN: 883dupC
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page