RNF5 c.76G>C ;(p.E26Q)

Variant ID: 6-32146364-G-C

NM_006913.3(RNF5):c.76G>C;(p.E26Q)

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:

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

American Journal Of Human Genetics
Ferdinandusse, Sacha S; Ylianttila, Mari S MS; Gloerich, Jolein J; Koski, M Kristian MK; Oostheim, Wendy W; Waterham, Hans R HR; Hiltunen, J Kalervo JK; Wanders, Ronald J A RJ; Glumoff, Tuomo T
Publication Date: 2006-01

Variant appearance in text:
PubMed Link: 16385454
Variant Present in the following documents:
  • Main text
View BVdb publication page