Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 2:27313031 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061857

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_002437.4:c.149G>A, 2176

HGVS names

This variant has 29 HGVS names - Show

About this variant

This variant overlaps 23 transcripts and is associated with 2 phenotypes.

Variant displays