Original source

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

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

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


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

Most severe consequence
Stop gained
Evidence status

Clinical significance


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