Original source

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

Alleles
C/- | Ancestral: C
Location

Chromosome 1:40784304 (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.40784304delC
ENST00000509682.4:c.211delC
ENSP00000423756.2:p.Gln71SerfsTer68
ENST00000347132.7:c.211delC
ENSP00000262916.6:p.Gln71SerfsTer68

Variation displays