Bibliome.ai browser hg19
Search
About
Stats
FAQ
CDH1 c.1748T>C ;(p.L583P)
Variant ID: 16-68855940-T-C
NM_004360.3(
CDH1
):c.1748T>C;(p.L583P)
This variant was identified in 1 publication
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: 1748T>C
PubMed Link:
31783775
Variant Present in the following documents:
13073_2019_683_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page