rs587783953 Rat Genome Database

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Variant: rs587783953 -  Homo sapiens

RGD ID: 9683029
RS ID: rs587783953
ClinVar ID: CV168417
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: NIPBL  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 5 37,014,860
GRCh38 5 37,014,758
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NP_056199.2:p.Lys1548fs
NP_597677.2:p.Lys1548fs
NM_015384.5:c.4636del
NM_133433.4:c.4636del
More... 		02/08/2013 frameshift 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)
CV168417HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVarPMID:18414213


.
PMID:18414213  



Database
Acc Id
Source(s)
ClinVar RCV000146615 CLINVAR
dbSNP (RS) rs587783953 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR