Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.01 (T)

Chromosome 1:17000272 (forward strand) | View in location tab


with COSMIC COSM3689142 (C/T) ; HGMD-PUBLIC CM098011

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays