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NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter) AND Sulfite oxidase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 28, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002251710.3

Allele description [Variation Report for NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter)]

NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter)

Gene:
SUOX:sulfite oxidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter)
HGVS:
  • NC_000012.12:g.56004294T>G
  • NG_008136.1:g.12036T>G
  • NM_000456.3:c.905T>G
  • NM_001032386.2:c.905T>GMANE SELECT
  • NM_001032387.2:c.905T>G
  • NP_000447.2:p.Leu302Ter
  • NP_001027558.1:p.Leu302Ter
  • NP_001027559.1:p.Leu302Ter
  • NC_000012.11:g.56398078T>G
  • NM_001032386.1:c.905T>G
Protein change:
L302*
Links:
dbSNP: rs2136512310
NCBI 1000 Genomes Browser:
rs2136512310
Molecular consequence:
  • NM_000456.3:c.905T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032386.2:c.905T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032387.2:c.905T>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Sulfite oxidase deficiency
Synonyms:
Isolated sulfite oxidase deficiency
Identifiers:
MONDO: MONDO:0010089; MedGen: C0268624; Orphanet: 833; OMIM: 272300; Human Phenotype Ontology: HP:0003643

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002522132Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS)
no assertion criteria provided
Pathogenic
(Oct 28, 2021) 		biparentalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS), SCV002522132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024