Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_050_FKRP_606596_0013, 13923

This variant has 7 HGVS names - click the plus to show

About this variant

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

Variant displays