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PTEN c.324del ;(p.D109Tfs*4)
Variant ID: 10-89692838-CT-C
NM_000314.4(
PTEN
):c.324del;(p.D109Tfs*4)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
KLLN epigenotype-phenotype associations in Cowden syndrome.
European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11
Variant appearance in text: PTEN: 324delT; Asp109Thrfs*4
PubMed Link:
25669429
Variant Present in the following documents:
View BVdb publication page
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Ngeow, Joanne J; Stanuch, Kim K; Mester, Jessica L JL; Barnholtz-Sloan, Jill S JS; Eng, Charis C
Publication Date: 2014-06-10
Variant appearance in text: PTEN: 324delT; Asp109Thrfs*4
PubMed Link:
24778394
Variant Present in the following documents:
Main text
View BVdb publication page