MED23 c.625G>A ;(p.V209M)

Variant ID: 6-131941009-C-T

NM_004830.3(MED23):c.625G>A;(p.V209M)

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:

Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene.

Journal Of Veterinary Internal Medicine
Guevar, Julien J; Olby, Natasha J NJ; Meurs, Kathryn M KM; Yost, Oriana O; Friedenberg, Steven G SG
Publication Date: 2018-03

Variant appearance in text: MED23: 625G>A; Val209Met
PubMed Link: 29460419
Variant Present in the following documents:
  • JVIM-32-665-s002.xlsx, sheet 1
View BVdb publication page