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CDH1 c.635G>T ;(p.G212V)
Variant ID: 16-68842699-G-T
NM_004360.3(
CDH1
):c.635G>T;(p.G212V)
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:
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: CDH1: 635G>T; Gly212Val
PubMed Link:
31783775
Variant Present in the following documents:
13073_2019_683_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Jama Network Open
Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E
Publication Date: 2019-10-02
Variant appearance in text: CDH1: 635G>T; G212V
PubMed Link:
31642931
Variant Present in the following documents:
jamanetwopen-2-e1913900-s001.pdf
View BVdb publication page