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PTEN c.734_737del ;(p.Q245Rfs*10)
Variant ID: 10-89717707-TCAGC-T
NM_000314.4(
PTEN
):c.734_737del;(p.Q245Rfs*10)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Oncoscience
Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; EyĆ¼poglu, Ilker Y IY; Savaskan, Nicolai N
Publication Date: 2016
Variant appearance in text: MMAC1: 734_737del
PubMed Link:
27489861
Variant Present in the following documents:
oncoscience-03-149-s001.pdf
View BVdb publication page
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: 734_737del; Gln245Argfs*10
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: 734_737del; Gln245Argfs*10
PubMed Link:
24778394
Variant Present in the following documents:
Main text
View BVdb publication page