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Variant (rsID / SNP)

rs28763969

DSP

rs28763969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,583,885. 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
6:7583885
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)
Allele change
Synonymous_A1687A

Associated conditions / phenotypes

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

Public references

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