Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
C/- | Ancestral: C
Location

Chromosome 1:41249976 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CD062196

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB DFNA_4

This variation has 5 HGVS names - click the plus to show

1:g.41249976delC
ENST00000509682.2:c.211delC
ENSP00000423756.2:p.Gln71SerfsTer68
ENST00000347132.5:c.211delC
ENSP00000262916.6:p.Gln71SerfsTer68

Variation displays