rs886060551 Rat Genome Database

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Variant: rs886060551 -  Homo sapiens

RGD ID: 11652784
RS ID: rs886060551
ClinVar ID: CV303645
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 36,876,932
GRCh38 5 36,876,830
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000005.10:g.36876830G>C
NC_000005.9:g.36876932G>C
NM_015384.5:c.-428G>C
NM_133433.4:c.-428G>C
More... 		01/13/2018 5 prime utr variant uncertain significance Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV303645HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVar 
Gene Symbol:NIPBL
Accession:XM_006714467
Location:5UTRS;EXON

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

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

Gene Symbol:NIPBL
Accession:XM_011514015
Location:5UTRS;EXON

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

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

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

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV000307141 CLINVAR
dbSNP (RS) rs886060551 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR