Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance


Uniprot VAR_058453

This variation has 18 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 14 transcripts, has 1093 individual genotypes and is associated with 1 phenotype.

Variation displays