Original source

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

Alleles
CAGCGCTCCTCGG/-
Location

Chromosome 1:41249976-41249988 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB DFNA_3

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

1:g.41249976_41249988delCAGCGCTCCTCGG
ENST00000509682.2:c.211_223delCAGCGCTCCTCGG
ENSP00000423756.2:p.Gln71ProfsTer64
ENST00000347132.5:c.211_223delCAGCGCTCCTCGG
ENSP00000262916.6:p.Gln71ProfsTer64

Variation displays