RGD:13532629 Rat Genome Database

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Variant: RGD:13532629 -  Homo sapiens

RGD ID: 13532629
RS ID: rs1555087619
ClinVar ID: CV511945
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLPB  LOC129662995  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 72,019,570
GRCh38 11 72,308,526
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.72308526C>T
NC_000011.9:g.72019570C>T
NM_030813.3:c.1156+1G>A
NM_001258394.3:c.1021+1G>A
More... 		03/31/2016 splice donor variant pathogenic|likely pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLPB
Accession:XM_011545289
Location:3UTRS;EXON

Gene Symbol:CLPB
Accession:NM_001258393
Location:INTRON

Gene Symbol:CLPB
Accession:XM_005274320
Location:INTRON

Gene Symbol:CLPB
Accession:NM_030813
Location:INTRON

Gene Symbol:CLPB
Accession:NM_001258392
Location:INTRON

Gene Symbol:CLPB
Accession:XM_047427656
Location:INTRON

Gene Symbol:CLPB
Accession:NM_001258394
Location:INTRON

Gene Symbol:CLPB
Accession:XM_047427655
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25597510   PMID:28492532   PMID:28687938  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000624380 CLINVAR
  RCV002532826 CLINVAR
dbSNP (RS) rs1555087619 CLINVAR
MedGen C0950123 CLINVAR
  C5676893 CLINVAR
NCBI Gene CLPB CLINVAR
OMIM 616254 CLINVAR
  616271 CLINVAR