Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 19:46756793 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013812 ; PhenCode FKRP:c.1343C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_041_FKRP_606596_0003, 13913

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 24 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays