Variant (rsID / SNP)

rs199597864

rs199597864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,923,648. Clinical significance in the table: Uncertain significance.

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Reference-table entries

JUPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:39923648
Cytoband: 17q21.2
HGVS: NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
Allele change: Missense_G298S

Associated conditions / phenotypes

Cardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12

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.