PTEN c.635_642del ;(p.N212Ifs*28)

Variant ID: 10-89717606-GCAGATCCT-G

NM_000314.4(PTEN):c.635_642del;(p.N212Ifs*28)

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:

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Human Mutation
Chen, Hannah Jinlian HJ; Romigh, Todd T; Sesock, Kaitlin K; Eng, Charis C
Publication Date: 2017-10

Variant appearance in text: PTEN: Asn212Ilefs*28
PubMed Link: 28677221
Variant Present in the following documents:
  • Main text
  • HUMU-38-1372.pdf
View BVdb publication page