NM_001360016.2(G6PD):c.1311= (p.Tyr437=) AND none provided

Clinical significance:Benign (Last evaluated: Aug 31, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283112.2

Allele description [Variation Report for NM_001360016.2(G6PD):c.1311= (p.Tyr437=)]

NM_001360016.2(G6PD):c.1311= (p.Tyr437=)

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.1311= (p.Tyr437=)
Other names:
G6PD, NT1311, C-T
HGVS:
  • NC_000023.11:g.154532439=
  • NG_009015.2:g.20134=
  • NM_000402.4:c.1401=
  • NM_001042351.3:c.1311=
  • NM_001360016.2:c.1311=MANE SELECT
  • NP_000393.4:p.Tyr467=
  • NP_001035810.1:p.Tyr437=
  • NP_001346945.1:p.Tyr437=
  • NC_000023.10:g.153760654G>A
  • NM_000402.3:c.1401C>T
  • NM_001042351.1:c.1311C>T
  • NM_001042351.2:c.1311T=
  • NP_001035810.1:p.(=)
  • NP_001035810.1:p.(=)
  • p.Tyr467Tyr
Links:
OMIM: 305900.0018; dbSNP: rs2230037
NCBI 1000 Genomes Browser:
rs2230037
Molecular consequence:
  • NM_000402.4:c.1401= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001042351.3:c.1311= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001360016.2:c.1311= - no sequence alteration - [Sequence Ontology: SO:0002073]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001156782ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Aug 31, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001156782.2

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

Last Updated: Nov 27, 2021

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