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PC c.47T>G ;(p.I16S)
Variant ID: 11-66639584-A-C
NM_001040716.1(
PC
):c.47T>G;(p.I16S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Hereditary Cancer In Clinical Practice
Chan, Sock Hoai SH; Chiang, Jianbang J; Ngeow, Joanne J
Publication Date: 2021-03-25
Variant appearance in text: PC: 47T>G
PubMed Link:
33766116
Variant Present in the following documents:
13053_2021_Article_178.pdf
View BVdb publication page
Psychological Impact of Learning CDKN2A Variant Status as a Genetic Research Result.
Public Health Genomics
Zhu, Xuan X; Leof, Emma R ER; Rabe, Kari G KG; McCormick, Jennifer B JB; Petersen, Gloria M GM; Radecki Breitkopf, Carmen C
Publication Date: 2018
Variant appearance in text: PC: 47T>G
PubMed Link:
30999302
Variant Present in the following documents:
Main text
View BVdb publication page
Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Leof, Emma R ER; Zhu, Xuan X; Rabe, Kari G KG; McCormick, Jennifer B JB; Petersen, Gloria M GM; Radecki Breitkopf, Carmen C
Publication Date: 2019-11
Variant appearance in text: PC: 47T>G
PubMed Link:
30992552
Variant Present in the following documents:
Main text
View BVdb publication page
Epidermal growth factor induction of front-rear polarity and migration in keratinocytes is mediated by integrin-linked kinase and ELMO2.
Molecular Biology Of The Cell
Ho, Ernest E; Dagnino, Lina L
Publication Date: 2012-02
Variant appearance in text: PC: I16S
PubMed Link:
22160594
Variant Present in the following documents:
492.pdf
View BVdb publication page