Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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 3 phenotypes.

Variant displays