RGD:11591818 Rat Genome Database

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Variant: RGD:11591818 -  Homo sapiens

RGD ID: 11591818
RS ID: rs540966156
ClinVar ID: CV299501
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 36,877,048
GRCh38 5 36,876,946
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.36876946T>A
NC_000005.9:g.36877048T>A
NM_015384.5:c.-312T>A
NM_133433.4:c.-312T>A
More... 		07/01/2022 5 prime utr variant benign|likely benign 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_011514015
Location:5UTRS;EXON

Gene Symbol:NIPBL
Accession:NM_015384
Location:5UTRS;EXON

Gene Symbol:NIPBL
Accession:NM_133433
Location:5UTRS;EXON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:5UTRS;EXON

Gene Symbol:NIPBL
Accession:XM_005248280
Location:5UTRS;EXON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:5UTRS;EXON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:5UTRS;EXON

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000332545 CLINVAR
  RCV002274996 CLINVAR
dbSNP (RS) rs540966156 CLINVAR
MedGen C3661900 CLINVAR
  C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR