RGD:14708725 Rat Genome Database

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Variant: RGD:14708725 -  Homo sapiens

RGD ID: 14708725
RS ID: rs776307936
ClinVar ID: CV669270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,912,165
GRCh38 17 41,755,913
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352774.2:c.2087-18C>T
NM_001352775.2:c.2087-18C>T
NM_001352777.2:c.2087-18C>T
NM_002230.4:c.2087-18C>T
More... 		04/18/2022 intron variant likely benign Arrhythmogenic right ventricular cardiomyopathy, type 12; Arrhythmogenic right ventricular dysplasia 12; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant; CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES; Keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY; Mal de Naxos; none provided; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; Woolly hair palmoplantar keratoderma cardiac abnormalities; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES
Disease Annotations     Click to see Annotation Detail View
Naxos disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:JUP
Accession:XM_011524758
Location:INTRON

Gene Symbol:JUP
Accession:NM_021991
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721875
Location:INTRON

Gene Symbol:JUP
Accession:XM_017024590
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435937
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435940
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435938
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352774
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435941
Location:INTRON

Gene Symbol:JUP
Accession:NM_002230
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721874
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435934
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435935
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352773
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435939
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352776
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352777
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352775
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435942
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000827237 CLINVAR
  RCV002487871 CLINVAR
dbSNP (RS) rs776307936 CLINVAR
MedGen C1832600 CLINVAR
  C3661900 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR
  601214 CLINVAR
  611528 CLINVAR