Variant (rsID / SNP)

rs199918720

rs199918720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,666,627. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DSC2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 18:28666627
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
Allele change: Missense_I285T

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 11|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.