RGD:12839258 Rat Genome Database

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Variant: RGD:12839258 -  Homo sapiens

RGD ID: 12839258
RS ID: rs1057520950
ClinVar ID: CV374973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,914,949
GRCh38 17 41,758,697
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_401t2:c.1653+18G>A
LRG_401:g.33016G>A
NG_009090.2:g.33016G>A
NC_000017.11:g.41758697C>T
More... 		10/28/2015 intron variant likely benign AllHighlyPenetrant; 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_001352776
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435934
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435938
Location:INTRON

Gene Symbol:JUP
Accession:XM_011524758
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352774
Location:INTRON

Gene Symbol:JUP
Accession:NM_002230
Location:INTRON

Gene Symbol:JUP
Accession:XM_017024590
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721875
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352773
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435942
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435941
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435937
Location:INTRON

Gene Symbol:JUP
Accession:NM_021991
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435935
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352775
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435939
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721874
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352777
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435940
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000428476 CLINVAR
  RCV002524889 CLINVAR
dbSNP (RS) rs1057520950 CLINVAR
MedGen C1832600 CLINVAR
  CN169374 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR
  601214 CLINVAR
  611528 CLINVAR