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Variant (rsID / SNP)

rs138907450

DSP

rs138907450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,580,285. 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
6:7580285
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
Allele change
Missense_K1288Q

Associated conditions / phenotypes

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

Public references

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