Variant (rsID / SNP)

rs397516969

rs397516969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,585,988. Clinical significance in the table: Likely benign.

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Reference-table entries

DSPLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:7585988
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.8493G>C (p.Ser2831=)
Allele change: Synonymous_S2388S

Associated conditions / phenotypes

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

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.