RGD:11598413 Rat Genome Database

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Variant: RGD:11598413 -  Homo sapiens

RGD ID: 11598413
RS ID: rs182767661
ClinVar ID: CV299844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC102723752  OXCT1  OXCT1-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 41,870,520
GRCh38 5 41,870,418
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011823.1:g.5272C>G
NC_000005.10:g.41870418G>C
NC_000005.9:g.41870520G>C
NM_000436.4:c.-60C>G
More... 		01/13/2018 5 prime utr variant benign|uncertain significance infancy <1 / 1 000 000 3-Oxoacid CoA Transferase Deficiency; SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY; Succinyl-CoA:3-oxoacid CoA transferase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OXCT1
Accession:NM_001364302
Location:5UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_001364301
Location:5UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_000436
Location:5UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_001364299
Location:5UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_001364300
Location:5UTRS;EXON

Gene Symbol:OXCT1
Accession:NR_157114
Location:EXON;NON-CODING

Gene Symbol:OXCT1
Accession:NM_001364303
Location:INTRON

Gene Symbol:OXCT1-AS1
Accession:NR_046635
Location:INTRON;NON-CODING

Gene Symbol:LOC102723752
Accession:XR_427695
Location:INTRON;NON-CODING

Gene Symbol:LOC102723752
Accession:XR_925956
Location:INTRON;NON-CODING

Gene Symbol:LOC102723752
Accession:XR_007058750
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000405419 CLINVAR
dbSNP (RS) rs182767661 CLINVAR
MedGen C0342792 CLINVAR
NCBI Gene OXCT1 CLINVAR
  OXCT1-AS1 CLINVAR
OMIM 245050 CLINVAR
  601424 CLINVAR
SNOMED CT 238004006 CLINVAR