Original source

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

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

Chromosome 19:46756376 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013806 ; PhenCode FKRP:c.926A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13911, 2010_April_001_039_FKRP_606596_0001

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