Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)

Chromosome 19:46755685 (forward strand) | View in location tab


with HGMD-PUBLIC CM033476 ; PhenCode FKRP:c.235G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 25 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 5 phenotypes.

Variant displays