Variant (rsID / SNP)

rs397516940

rs397516940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,580,954. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DSPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:7580954
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
Allele change: Silent

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.