Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (A)
Location

Chromosome 1:197477806 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3385589 ; HGMD-PUBLIC CM043275

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_022983

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays