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PTEN c.209+3A>T
Variant ID: 10-89685317-A-T
NM_000314.4(
PTEN
):c.209+3A>T
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:
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29
Variant appearance in text: PTEN: 209+3A>T
PubMed Link:
31783775
Variant Present in the following documents:
13073_2019_683_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Human Mutation
Mester, Jessica L JL; Ghosh, Rajarshi R; Pesaran, Tina T; Huether, Robert R; Karam, Rachid R; Hruska, Kathleen S KS; Costa, Helio A HA; Lachlan, Katherine K; Ngeow, Joanne J; Barnholtz-Sloan, Jill J; Sesock, Kaitlin K; Hernandez, Felicia F; Zhang, Liying L; Milko, Laura L; Plon, Sharon E SE; Hegde, Madhuri M; Eng, Charis C
Publication Date: 2018-11
Variant appearance in text: PTEN: 209+3A>T
PubMed Link:
30311380
Variant Present in the following documents:
Main text
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: PTEN: 209+3A>T
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page