Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: 0.01 (T)
Location

Chromosome 17:43115746 (forward strand)|View in location tab

Co-located variants

COSMIC COSM133664 ; HGMD-PUBLIC CM041682

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 84 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 46 transcripts, has 3015 sample genotypes and is associated with 7 phenotypes.

Variant displays