Original source

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

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

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

Co-located variants

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 13911, 2010_April_001_039_FKRP_606596_0001

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