Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

C/A/T | Ancestral: C | Ambiguity code: H

Chromosome 19:46756814 (forward strand) | View in location tab


with HGMD-PUBLIC CM043841 ; PhenCode FKRP:c.1364C>A (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 48 transcripts and is associated with 3 phenotypes.

Variant displays