RGD:28889564 Rat Genome Database

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Variant: RGD:28889564 -  Homo sapiens

RGD ID: 28889564
RS ID: rs374348403
ClinVar ID: CV896099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,058,978
GRCh38 5 37,058,876
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_006987.2:g.186994G>A
NC_000005.10:g.37058876G>A
NC_000005.9:g.37058978G>A
NM_133433.3:c.7411-15G>A
More... 		07/25/2022 intron variant conflicting interpretations of pathogenicity|uncertain significance Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NIPBL
Accession:XM_005248280
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_133433
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_011514015
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001152138 CLINVAR
dbSNP (RS) rs374348403 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR