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 6:121447133 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM042353

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

6:g.121447133G>A
ENST00000282561.3:c.286G>A
ENSP00000282561.3:p.Val96Met

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_Human610_Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 1 transcript and is associated with 3 phenotypes.

Variant displays