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 1:11022292 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM091851, CM091850

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 50 HGVS names - Show

About this variant

This variant overlaps 70 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays