Original source

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

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

Chromosome 5:132389020 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002863

Most severe consequence
 
Stop lost
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays