RGD:156087118 Rat Genome Database

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Variant: RGD:156087118 -  Homo sapiens

RGD ID: 156087118
ClinVar ID: CV2295395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALNT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 58,024,870
GRCh38 12 57,631,087
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001276468.2:c.219-1G>A
NM_001276469.2:c.384-1G>A
NM_001478.5:c.384-1G>A
NG_033849.2:g.7114G>A
More... 		10/27/2022 splice acceptor variant likely pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2295395Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Gene Symbol:B4GALNT1
Accession:NM_001413984
Location:5UTRS;INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413982
Location:5UTRS;INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413983
Location:5UTRS;INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413981
Location:5UTRS;INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413971
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001478
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001276469
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413974
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413969
Location:INTRON

Gene Symbol:B4GALNT1
Accession:XM_047428680
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413977
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413973
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413978
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413968
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413967
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413970
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413980
Location:INTRON

Gene Symbol:B4GALNT1
Accession:XM_047428681
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001276468
Location:INTRON

Gene Symbol:B4GALNT1
Accession:XM_005268773
Location:INTRON

Gene Symbol:B4GALNT1
Accession:XM_011538147
Location:INTRON

Gene Symbol:B4GALNT1
Accession:XM_024448928
Location:INTRON

Gene Symbol:B4GALNT1
Accession:XM_047428682
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413972
Location:INTRON

Gene Symbol:B4GALNT1
Accession:NM_001413979
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV002887786 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene B4GALNT1 CLINVAR
OMIM 601873 CLINVAR