RGD:28900689 Rat Genome Database

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Variant: RGD:28900689 -  Homo sapiens

RGD ID: 28900689
RS ID: rs1911267997
ClinVar ID: CV876994
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B9D1  LOC130060455  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 19,265,903
GRCh38 17 19,362,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321214.2:c.-21C>T
NM_001321216.2:c.-21C>T
NM_001321217.2:c.-21C>T
NM_001321218.2:c.-21C>T
More... 		01/12/2018 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B9D1
Accession:NM_001321217
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:XM_005256610
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_001321214
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_015681
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_001321216
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:XM_047435753
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_001330149
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:XM_047435751
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:XM_047435754
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_001321219
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:XM_047435752
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:XM_047435755
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_001321218
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_001321215
Location:5UTRS;EXON

Gene Symbol:B9D1
Accession:NM_001368769
Location:5UTRS;INTRON

Gene Symbol:B9D1
Accession:XM_047435750
Location:5UTRS;INTRON

Gene Symbol:B9D1
Accession:XM_047435756
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001124461 CLINVAR
dbSNP (RS) rs1911267997 CLINVAR
MedGen C3280155 CLINVAR
NCBI Gene B9D1 CLINVAR
  LOC130060455 CLINVAR
OMIM 614144 CLINVAR
  614209 CLINVAR