This variation has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/A/G/T | Ancestral: C | Ambiguity code: N | MAF: 0.01 (T)

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


with COSMIC COSM133664 (C/A) ; HGMD-PUBLIC CM041682

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 104 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 66 transcripts, has 3015 individual genotypes and is associated with 4 phenotypes.

Variation displays