Variant (rsID / SNP)

rs143040393

rs143040393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,654,748. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DSC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:28654748
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.1789G>T (p.Val597Phe)
Allele change: Missense_V597F

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype|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.