rs78477452 Rat Genome Database

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Variant: rs78477452 -  Homo sapiens

RGD ID: 150511447
RS ID: rs78477452
ClinVar ID: CV1229465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,006,989
GRCh38 5 37,006,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_015384.5:c.4087+299T>A
NM_133433.4:c.4087+299T>A
NG_006987.2:g.135005T>A
NC_000005.10:g.37006887T>A
More... 		07/15/2018 intron variant benign none provided

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:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_011514015
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248280
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001637394 CLINVAR
dbSNP (RS) rs78477452 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 608667 CLINVAR