Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | 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
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 24 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays