Variant (rsID / SNP)

rs142331975

rs142331975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,669,425. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:28669425
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)
Allele change: Missense_R203C

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 11

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.