Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 1:17044882 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD041934, CM020965

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

About this variant

This variant overlaps 14 transcripts and is associated with 6 phenotypes.

Variant displays