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 5:132867015 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM081849

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature, has 1 sample genotype and is associated with 3 phenotypes.

Variant displays