Variant (rsID / SNP)

rs397515458

rs397515458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRDN. Location: chromosome 6, position 123,825,044. Clinical significance in the table: Pathogenic.

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Reference-table entries

TRDNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:123825044
Cytoband: 6q22.31
HGVS: NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
Allele change: Nonsense_Q205X

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia

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.