rs200744764 Rat Genome Database

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Variant: rs200744764 -  Homo sapiens

RGD ID: 15132378
RS ID: rs200744764
ClinVar ID: CV779306
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,002,754
GRCh38 5 37,002,652
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_006987.2:g.130770G>A
NC_000005.10:g.37002652G>A
NC_000005.9:g.37002754G>A
NM_133433.3:c.3665-10G>A
More... 		01/21/2024 intron variant likely benign Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV779306HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVarPMID:28492532
Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_011514015
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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003603082 CLINVAR
dbSNP (RS) rs200744764 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR