Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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


with HGMD-PUBLIC CM930500

Most severe consequence
Missense variant
Evidence status

Clinical significance


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

This variant has 4 HGVS names - click the plus to 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