Original source

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

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

Chromosome 1:226888977 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM951088

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 9 transcripts and is associated with 4 phenotypes.

Variant displays