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Variant (rsID / SNP)

rs181378432

DSP

rs181378432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,584,294. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DSPBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:7584294
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
Allele change
Missense_T1824S

Associated conditions / phenotypes

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

Public references

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