RGD:28888997 Rat Genome Database

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Variant: RGD:28888997 -  Homo sapiens

RGD ID: 28888997
RS ID: rs991465345
ClinVar ID: CV894371
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OXCT1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 41,730,358
GRCh38 5 41,730,256
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011823.1:g.145434G>T
NM_001364299.2:c.*1473G>T
NC_000005.10:g.41730256C>A
NR_157114.2:n.3030G>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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_001364300
Location:3UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_000436
Location:3UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_001364299
Location:3UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_001364301
Location:3UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_001364302
Location:3UTRS;EXON

Gene Symbol:OXCT1
Accession:NM_001364303
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001151940 CLINVAR
dbSNP (RS) rs991465345 CLINVAR
MedGen C0342792 CLINVAR
NCBI Gene OXCT1 CLINVAR
OMIM 245050 CLINVAR
  601424 CLINVAR
SNOMED CT 238004006 CLINVAR