Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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

Co-located

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

Most severe consequence
Clinical significance

Synonyms

LSDB 11588

This variation has 24 HGVS names - click the plus to show

Variation displays