NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 29, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000178824.1

Allele description [Variation Report for NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)]

NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
HGVS:
  • NC_000023.11:g.154535270A>G
  • NG_009015.2:g.17303T>C
  • NM_000402.4:c.473T>C
  • NM_001042351.3:c.383T>C
  • NM_001360016.2:c.383T>CMANE SELECT
  • NP_000393.4:p.Leu158Pro
  • NP_001035810.1:p.Leu128Pro
  • NP_001346945.1:p.Leu128Pro
  • NC_000023.10:g.153763485A>G
  • NM_001042351.1:c.383T>C
  • NM_001042351.2:c.383T>C
Protein change:
L128P
Links:
dbSNP: rs78365220
NCBI 1000 Genomes Browser:
rs78365220
Molecular consequence:
  • NM_000402.4:c.473T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.383T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.383T>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
SCV000230986EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Oct 29, 2013)
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, SCV000230986.5

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

Last Updated: Dec 4, 2021

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