RGD:596928532 Rat Genome Database

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Variant: RGD:596928532 -  Homo sapiens

RGD ID: 596928532
ClinVar ID: CV3541526
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: NIPBL  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,026,414
GRCh38 5 37,026,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_015384.5:c.5795dup
NM_133433.4:c.5795dup
NG_006987.2:g.154432dup
NC_000005.10:g.37026314dup
More... 		frameshift variant pathogenic Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3541526HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV004797398 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR