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PTEN c.486del ;(p.D162Efs*5)
Variant ID: 10-89693002-AC-A
NM_000314.4(
PTEN
):c.486del;(p.D162Efs*5)
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:
PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.
Diagnostic Pathology
Rahmatinejad, Zahra Z; Goshayeshi, Ladan L; Bergquist, Robert R; Goshayeshi, Lena L; Golabpour, Amin A; Hoseini, Benyamin B
Publication Date: 2023-04-04
Variant appearance in text: PTEN: 486delC
PubMed Link:
37016356
Variant Present in the following documents:
Main text
13000_2023_Article_1331.pdf
View BVdb publication page
Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.
Internal Medicine (Tokyo, Japan)
Adachi, Tadashi T; Takigawa, Hiroshi H; Nomura, Takashi T; Watanabe, Yasuhiro Y; Kowa, Hisanori H
Publication Date: 2018-01-01
Variant appearance in text: PTEN: 486delC
PubMed Link:
29033429
Variant Present in the following documents:
Main text
1349-7235-57-0097.pdf
View BVdb publication page