RGD:15190368 Rat Genome Database

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Variant: RGD:15190368 -  Homo sapiens

RGD ID: 15190368
RS ID: rs782504602
ClinVar ID: CV740741
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 39,925,928
GRCh38 17 41,769,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352773.2:c.210T>C
NM_001352774.2:c.210T>C
NM_001352776.2:c.210T>C
NC_000017.11:g.41769676A>G
More... 		11/10/2018 synonymous 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; 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:NM_021991
Location:EXON

Gene Symbol:JUP
Accession:NM_001352773
Location:EXON

Gene Symbol:JUP
Accession:XM_047435939
Location:EXON

Gene Symbol:JUP
Accession:XM_047435942
Location:EXON

Gene Symbol:JUP
Accession:NM_002230
Location:EXON

Gene Symbol:JUP
Accession:XM_006721874
Location:EXON

Gene Symbol:JUP
Accession:XM_017024590
Location:EXON

Gene Symbol:JUP
Accession:XM_047435938
Location:EXON

Gene Symbol:JUP
Accession:NM_001352775
Location:EXON

Gene Symbol:JUP
Accession:XM_047435941
Location:EXON

Gene Symbol:JUP
Accession:XM_047435935
Location:EXON

Gene Symbol:JUP
Accession:XM_011524758
Location:EXON

Gene Symbol:JUP
Accession:NM_001352777
Location:EXON

Gene Symbol:JUP
Accession:XM_047435934
Location:EXON

Gene Symbol:JUP
Accession:NM_001352774
Location:EXON

Gene Symbol:JUP
Accession:NM_001352776
Location:EXON

Gene Symbol:JUP
Accession:XM_047435940
Location:EXON

Gene Symbol:JUP
Accession:XM_047435937
Location:EXON

Gene Symbol:JUP
Accession:XM_006721875
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909927 CLINVAR
dbSNP (RS) rs782504602 CLINVAR
MedGen C1832600 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR
  601214 CLINVAR
  611528 CLINVAR