RGD:11584369 Rat Genome Database

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Variant: RGD:11584369 -  Homo sapiens

RGD ID: 11584369
RS ID: rs562131143
ClinVar ID: CV297447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 37,026,318
GRCh38 5 37,026,216
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.37026216C>T
NC_000005.9:g.37026318C>T
NM_015384.5:c.5710-13C>T
NM_133433.3:c.5710-13C>T
More... 		01/13/2018 intron variant benign|likely benign 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:XM_011514015
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000273182 CLINVAR
  RCV003912506 CLINVAR
dbSNP (RS) rs562131143 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR