Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:53210194 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960421

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 4 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays