NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 31, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000354491.1

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]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000330997EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 31, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000330997.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Nov 27, 2021

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