Original source

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

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_041_FKRP_606596_0003, 13913

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

About this variant

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

Variation displays