Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
CAGCGCTCCTCGG/-
Location

Chromosome 1:40784304-40784316 (forward strand) | View in location tab

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB DFNA_3

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

1:g.40784304_40784316delCAGCGCTCCTCGG
ENST00000509682.6:c.212_224delAGCGCTCCTCGGC
ENSP00000423756.2:p.Gln71ProfsTer64
ENST00000347132.9:c.212_224delAGCGCTCCTCGGC
ENSP00000262916.6:p.Gln71ProfsTer64

About this variant

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

Variant displays