Original source

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

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

Chromosome 19:46756604 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3536208 ; HGMD-PUBLIC CM013810 ; PhenCode FKRP:c.1154C>A (C/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_040_FKRP_606596_0002, 13912

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 48 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays