RGD:13493662 Rat Genome Database

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Variant: RGD:13493662 -  Homo sapiens

RGD ID: 13493662
RS ID: rs1554032266
ClinVar ID: CV455181
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,046,306
GRCh38 5 37,046,204
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.37046204G>A
NC_000005.9:g.37046306G>A
NM_015384.5:c.6589+5G>A
NM_133433.4:c.6589+5G>A
More... 		02/03/2023 intron variant pathogenic|uncertain significance Brachmann de Lange syndrome; none provided; Typus degenerativus amstelodamensis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_011514015
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248280
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_133433
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:20824775   PMID:22857006   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000558355 CLINVAR
  RCV003319378 CLINVAR
dbSNP (RS) rs1554032266 CLINVAR
MedGen C3661900 CLINVAR
  C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR