RGD:28883379 Rat Genome Database

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Variant: RGD:28883379 -  Homo sapiens

RGD ID: 28883379
RS ID: rs752290309
ClinVar ID: CV903036
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 38,280,510
GRCh38 X 38,421,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000531.5:c.*175T>C
NM_000531.6:c.*175T>C
NG_008471.1:g.73775T>C
NC_000023.11:g.38421257T>C
More... 		04/27/2017 3 prime utr variant uncertain significance Ornithine Carbamoyltransferase Deficiency Disease; Ornithine transcarbamylase deficiency; ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:NM_001407092
Location:3UTRS;EXON

Gene Symbol:OTC
Accession:NM_000531
Location:3UTRS;EXON

Gene Symbol:OTC
Accession:XM_017029556
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168192 CLINVAR
dbSNP (RS) rs752290309 CLINVAR
MedGen C0268542 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR
  311250 CLINVAR
SNOMED CT 80908008 CLINVAR