Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 2:46380281 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM080232, CM081583

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11789, 11790

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 10 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays