RGD:405175143 Rat Genome Database

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Variant: RGD:405175143 -  Homo sapiens

RGD ID: 405175143
ClinVar ID: CV2940929
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUOX  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 56,397,388
GRCh38 12 56,003,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000456.3:c.229-14T>C
NM_001032386.2:c.229-14T>C
NM_001032387.2:c.229-14T>C
NG_008136.1:g.11346T>C
More... 		11/04/2023 intron variant likely benign 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003639028 CLINVAR
MedGen C0268624 CLINVAR
NCBI Gene SUOX CLINVAR
OMIM 272300 CLINVAR
  606887 CLINVAR
SNOMED CT 367368009 CLINVAR