Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 2:27309945 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061855

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2177, NM_002437.4:c.498C>A

HGVS names

This variant has 20 HGVS names - Show

About this variant

This variant overlaps 25 transcripts and is associated with 2 phenotypes.

Variant displays