CDH1 c.2549_2550del ;(p.S850Ffs*10)

Variant ID: 16-68867302-TCC-T

NM_004360.3(CDH1):c.2549_2550del;(p.S850Ffs*10)

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:

A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.

Cold Spring Harbor Molecular Case Studies
Krempely, Kate K; Karam, Rachid R
Publication Date: 2018-08

Variant appearance in text: CDH1: 2549_2550delCC; Ser850Phefs
PubMed Link: 29798843
Variant Present in the following documents:
  • Main text
  • MCS003012Kre.pdf
View BVdb publication page