Variant (rsID / SNP)

rs397516953

rs397516953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,584,150. 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: 6:7584150
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
Allele change: Missense_V1776I

Associated conditions / phenotypes

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

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.