Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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