SI c.1313G>A ;(p.G438E)

Variant ID: 3-164776836-C-T

NM_001041.3(SI):c.1313G>A;(p.G438E)

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 single base pair duplication in WDR62 causes primary microcephaly.

Bmc Medical Genetics
Rupp, Verena V; Rauf, Sobiah S; Naveed, Ishrat I; Windpassinger, Christian C; Mir, Asif A
Publication Date: 2014-10-11

Variant appearance in text: SI: 1313G>A
PubMed Link: 25303973
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_107.pdf
View BVdb publication page