Variant (rsID / SNP)

rs1057518920

rs1057518920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,575,619. 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: 6:7575619
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)
Allele change: Nonsense_S843X

Associated conditions / phenotypes

Bicuspid aortic valve|Ventricular fibrillation|Sudden cardiac death|Cardiac arrhythmia|Aortic dilatation

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.