Variant (rsID / SNP)

rs113994177

rs113994177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,913,674. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

JUPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:39913674
Cytoband: 17q21.2
HGVS: NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)

Associated conditions / phenotypes

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.