rs587784059 Rat Genome Database

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Variant: rs587784059 -  Homo sapiens

RGD ID: 9683155
RS ID: rs587784059
ClinVar ID: CV168325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 36,975,877
GRCh38 5 36,975,775
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NC_000005.10:g.36975775G>A
NC_000005.9:g.36975877G>A
NM_133433.3:c.869-1G>A
NM_015384.5:c.869-1G>A
More... 		02/08/2013 splice acceptor variant pathogenic antenatal|neonatal/infancy cornelia de lange syndrome occurs in 1 in 10-100,000 live births. Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV168325HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVarPMID:18414213
Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_011514015
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_133433
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248280
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

.
PMID:18414213  



Database
Acc Id
Source(s)
ClinVar RCV000146745 CLINVAR
dbSNP (RS) rs587784059 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR