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Variant (rsID / SNP)

rs141026028

DSP

rs141026028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,583,991. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DSPPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:7583991
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
Allele change
Synonymous_R1723R

Associated conditions / phenotypes

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

Public references

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