RGD:9683019 Rat Genome Database

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Variant: RGD:9683019 -  Homo sapiens

RGD ID: 9683019
RS ID: rs377381536
ClinVar ID: CV168409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 37,008,204
GRCh38 5 37,008,102
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.37008102A>G
NC_000005.9:g.37008204A>G
NM_015384.5:c.4320+14A>G
NM_133433.4:c.4320+14A>G
More... 		01/13/2018 intron variant benign|likely benign AllHighlyPenetrant; Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248280
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_133433
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_011514015
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146605 CLINVAR
  RCV000395753 CLINVAR
dbSNP (RS) rs377381536 CLINVAR
MedGen C4551851 CLINVAR
  CN169374 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR