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Variant (rsID / SNP)

rs121912997

DSP

rs121912997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,580,222. Clinical significance in the table: Pathogenic.

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Reference-table entries

DSPPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:7580222
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
Allele change
Nonsense_R1267X

Associated conditions / phenotypes

Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Primary dilated cardiomyopathy|Long QT syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8

Public references

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