Original source

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

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

Chromosome 2:71682597 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM980578 ; PhenCode DYSF:c.6124C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11588

HGVS names

This variant has 24 HGVS names - Show

About this variant

This variant overlaps 12 transcripts and is associated with 4 phenotypes.

Variant displays