Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

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

Co-located

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 - click the plus to show

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

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 24 transcripts and is associated with 3 phenotypes.

Variant displays