CDH1 c.369C>G ;(p.H123Q)

Variant ID: 16-68835778-C-G

NM_004360.3(CDH1):c.369C>G;(p.H123Q)

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:

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: CDH1: H123Q; rs778954591
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 7
  • pcbi.1007453.s002.xlsx, sheet 1
  • pcbi.1007453.s004.xlsx, sheet 2
View BVdb publication page