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Variant (rsID / SNP)

rs201397978

DSP

rs201397978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,585,686. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DSPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:7585686
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
Allele change
Missense_Y2288H

Associated conditions / phenotypes

Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma

Public references

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