SI c.706G>C ;(p.D236H)

Variant ID: 3-164783150-C-G

NM_001041.3(SI):c.706G>C;(p.D236H)

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:

Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

European Journal Of Human Genetics : Ejhg
Diekmann, Simone S; Henneke, Marco M; Burckhardt, Birgitta C BC; Gärtner, Jutta J
Publication Date: 2010-09

Variant appearance in text: SI: 706G>C
PubMed Link: 20442743
Variant Present in the following documents:
  • Main text
View BVdb publication page