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.




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