Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 5:174729222 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930500

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1398, 2010_April_001_032_MSX2_123101_0001, NM_002449.4:c.443C>A

HGVS names

This variant has 4 HGVS names - Show

About this variant

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

Variant displays