RGD:11665722 Rat Genome Database

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Variant: RGD:11665722 -  Homo sapiens

RGD ID: 11665722
RS ID: rs373341778
ClinVar ID: CV332193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUOX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 56,393,230
GRCh38 12 55,999,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008136.1:g.7188G>A
NC_000012.12:g.55999446G>A
NC_000012.11:g.56393230G>A
NM_001032387.2:c.-11+2107G>A
More... 		06/14/2016 5 prime utr variant uncertain significance antenatal Isolated sulfite oxidase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SUOX
Accession:NM_000456
Location:5UTRS;EXON

Gene Symbol:SUOX
Accession:NM_001032386
Location:5UTRS;INTRON

Gene Symbol:SUOX
Accession:NM_001032387
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000290183 CLINVAR
dbSNP (RS) rs373341778 CLINVAR
MedGen C0268624 CLINVAR
NCBI Gene SUOX CLINVAR
OMIM 272300 CLINVAR
  606887 CLINVAR
SNOMED CT 367368009 CLINVAR