Variant (rsID / SNP)

rs149701627

rs149701627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,565,702. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DSPPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:7565702
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)
Allele change: Synonymous_Y296Y

Associated conditions / phenotypes

Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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