Variant (rsID / SNP)

rs727504498

rs727504498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,570,710. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DSPLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:7570710
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.1615C>T (p.Gln539Ter)
Allele change: Nonsense_Q539X

Associated conditions / phenotypes

Primary dilated 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.