Original source

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

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

Chromosome 19:46756276 (forward strand) | View in location tab


with HGMD-PUBLIC CM013805 ; PhenCode FKRP:c.826C>A (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 24 transcripts, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 1 citation.

Variant displays