Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: 0.02 (A)
Location

Chromosome 8:19948197 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3432253 ; HGMD-PUBLIC CM910259

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 14 transcripts, has 2542 sample genotypes, is associated with 4 phenotypes and is mentioned in 21 citations.

Variant displays