Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 19:46756214 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM033471 ; PhenCode FKRP:c.764G>A (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13923, 2010_April_001_050_FKRP_606596_0013

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 24 transcripts and is associated with 2 phenotypes.

Variant displays