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NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) AND Methemoglobinemia type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2000
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:
RCV000000272.3

Allele description [Variation Report for NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)]

NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)

Gene:
CYB5R3:cytochrome b5 reductase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)
HGVS:
  • NC_000022.11:g.42627674G>A
  • NG_012194.1:g.26726C>T
  • NM_000398.7:c.478C>TMANE SELECT
  • NM_001129819.2:c.409C>T
  • NM_001171660.2:c.577C>T
  • NM_001171661.1:c.409C>T
  • NM_007326.4:c.409C>T
  • NP_000389.1:p.Arg160Ter
  • NP_001123291.1:p.Arg137Ter
  • NP_001165131.1:p.Arg193Ter
  • NP_001165132.1:p.Arg137Ter
  • NP_015565.1:p.Arg137Ter
  • NC_000022.10:g.43023680G>A
  • NM_000398.6:c.478C>T
Protein change:
R137*; ARG160TER
Links:
OMIM: 613213.0015; dbSNP: rs61732609
NCBI 1000 Genomes Browser:
rs61732609
Molecular consequence:
  • NM_000398.7:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001129819.2:c.409C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001171660.2:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001171661.1:c.409C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007326.4:c.409C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Methemoglobinemia type 2
Synonyms:
METHEMOGLOBINEMIA, TYPE II
Identifiers:
MedGen: C2749560

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020416OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2000) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.

Aalfs CM, Salieb-Beugelaar GB, Wanders RJ, Mannens MM, Wijburg FA.

Hum Mutat. 2000;16(1):18-22.

PubMed [citation]
PMID:
10874300

Details of each submission

From OMIM, SCV000020416.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the arg160-to-ter (R160X) mutation in the CYB5R3 gene that was found in compound heterozygous state in a patient with type II methemoglobinemia (250800) by Aalfs et al. (2000), see 613213.0014.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024