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 5:151851440 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM013549

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000171.3:c.862G>A, 2274

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays