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Variant (rsID / SNP)

rs144821643

DSP

rs144821643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,585,371. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSPUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
6:7585371
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
Allele change
Missense_E2183Q

Associated conditions / phenotypes

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.