RGD:597720117 Rat Genome Database

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Variant: RGD:597720117 -  Homo sapiens

RGD ID: 597720117
ClinVar ID: CV3721941
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 36,986,025
GRCh38 5 36,985,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_015384.5:c.2743A>C
NM_133433.4:c.2743A>C
NG_006987.2:g.114041A>C
NC_000005.10:g.36985923A>C
More... 		04/08/2024 missense variant uncertain significance Brachmann de Lange syndrome; TYPUS DEGENERATIVUS AMSTELODAMENSIS
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3721941HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV005035660 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR