RGD:9682997 Rat Genome Database

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Variant: RGD:9682997 -  Homo sapiens

RGD ID: 9682997
RS ID: rs587783928
ClinVar ID: CV168313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 36,958,338
GRCh38 5 36,958,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000005.10:g.36958236G>C
NC_000005.9:g.36958338G>C
NM_015384.5:c.358+5G>C
NM_133433.4:c.358+5G>C
More... 		02/08/2013 intron variant likely pathogenic antenatal|neonatal/infancy cornelia de lange syndrome occurs in 1 in 10-100,000 live births. Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NIPBL
Accession:XM_011514015
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248280
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_133433
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146583 CLINVAR
dbSNP (RS) rs587783928 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR