Variant (rsID / SNP)

rs397516927

rs397516927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,577,240. 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: Duplication
Chromosome / position: 6:7577240
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.2848dup (p.Ile950fs)

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis

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.