Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 5:174729294 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001249

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_033_MSX2_123101_0003, 1400

HGVS names

This variant has 4 HGVS names - Show

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays