Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

A/C | Ambiguity code: M

Chromosome 12:52303146 (forward strand) | View in location tab


with COSMIC COSM3765657 (A/C) ; PhenCode HIFD_KRT86:c.416A>C (A/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts and is associated with 1 phenotype.

Variation displays