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 7:44147830 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920305, CM096860, CM032577

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays