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: < 0.01 (C)
Location

Chromosome 17:4901944 (forward strand)|View in location tab

Co-located variants

COSMIC COSM178997 ; HGMD-PUBLIC CM962727

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 26 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays