Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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