NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND G6PD COSENZA

Clinical significance:other (Last evaluated: May 24, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000011167.4

Allele description [Variation Report for NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)]

NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
Other names:
G6PD, ARG459PRO
HGVS:
  • NC_000023.11:g.154532269C>G
  • NG_009015.2:g.20304G>C
  • NM_000402.4:c.1466G>C
  • NM_001042351.3:c.1376G>C
  • NM_001360016.2:c.1376G>CMANE SELECT
  • NP_000393.4:p.Arg489Pro
  • NP_001035810.1:p.Arg459Pro
  • NP_001346945.1:p.Arg459Pro
  • NC_000023.10:g.153760484C>G
  • NM_001042351.1:c.1376G>C
  • NM_001042351.2:c.1376G>C
Protein change:
R459P; ARG459PRO
Links:
OMIM: 305900.0059; dbSNP: rs72554665
NCBI 1000 Genomes Browser:
rs72554665
Molecular consequence:
  • NM_000402.4:c.1466G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1376G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1376G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PD COSENZA
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031394OMIMno assertion criteria providedother
(May 24, 2017)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.

Calabrò V, Mason PJ, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L.

Am J Hum Genet. 1993 Mar;52(3):527-36.

PubMed [citation]
PMID:
8447319
PMCID:
PMC1682169

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split.

Barišić M, Korać J, Pavlinac I, Krželj V, Marušić E, Vulliamy T, Terzić J.

J Hum Genet. 2005;50(11):547-549. doi: 10.1007/s10038-005-0292-2. Epub 2005 Sep 6.

PubMed [citation]
PMID:
16143877

Details of each submission

From OMIM, SCV000031394.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Calabro et al. (1993) identified a novel G6PD variant, which they called Cosenza, in patients with G6PD deficiency from the Calabria region of southern Italy. The arg459-to-pro (A459P) substitution results from a 1376G-C transversion. The mutant protein retains less than 10% enzyme activity and belongs to the group of severe disorders often associated with hemolysis.

Barisic et al. (2005) identified G6PD Cosenza in 9 (37.5%) of 24 unrelated patients with G6PD deficiency from the Dalmatian region of southern Croatia. Seven of the 9 patients had favism.

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

Last Updated: Sep 29, 2021

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