Original source

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

Alleles
C/-|Ancestral: C
Location

Chromosome 1:40784304 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CD062196

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB DFNA_4

HGVS names

This variant has 5 HGVS names - Hide

1:g.40784304delC
ENST00000509682.6:c.211delC
ENSP00000423756.2:p.Gln71SerfsTer68
ENST00000347132.9:c.211delC
ENSP00000262916.6:p.Gln71SerfsTer68

About this variant

This variant overlaps 2 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays