VANGL1 c.485T>C ;(p.I162T)

Variant ID: 1-116206562-T-C

NM_138959.2(VANGL1):c.485T>C;(p.I162T)

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:

Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Molecular Syndromology
Bartsch, O O; Kirmes, I I; Thiede, A A; Lechno, S S; Gocan, H H; Florian, I S IS; Haaf, T T; Zechner, U U; Sabova, L L; Horn, F F
Publication Date: 2012-08

Variant appearance in text: VANGL1: 485T>C
PubMed Link: 23326252
Variant Present in the following documents:
  • Main text
View BVdb publication page