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Variant (rsID / SNP)

rs730880081

DSP

rs730880081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,576,540. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSPUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
6:7576540
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)
Allele change
Nonsense_E882X

Associated conditions / phenotypes

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

Public references

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