Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 19:46756349 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM033473 ; PhenCode FKRP:c.899T>C (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_052_FKRP_606596_0015, 13925

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