Original source

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

C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)

Chromosome 19:46755877 (forward strand) | View in location tab


with HGMD-PUBLIC CM013803, CD013873 ; PhenCode FKRP:c.427C>A (C/A)

Most severe consequence
Evidence status

Clinical significance


Uniprot VAR_018282

This variation has 10 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 24 transcripts, has 2504 individual genotypes and is associated with 1 phenotype.

Variation displays