SYNE3 c.863G>T ;(p.R288L)

Variant ID: 14-95921988-C-A

NM_152592.3(SYNE3):c.863G>T;(p.R288L)

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:

DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.

Bmc Veterinary Research
Peters, Martin M; Reber, Irene I; Jagannathan, Vidhya V; Raddatz, Barbara B; Wohlsein, Peter P; Drögemüller, Cord C
Publication Date: 2015-03-04

Variant appearance in text: C14orf49: R288L
PubMed Link: 25890340
Variant Present in the following documents:
  • 12917_2015_366_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page