NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Clinical significance:Pathogenic (Last evaluated: Mar 14, 1991)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000402.4(G6PD):c.193_195delATC (p.Ile66del)]

NM_000402.4(G6PD):c.193_195delATC (p.Ile66del)

G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.193_195delATC (p.Ile66del)
Other names:
G6PD, ILE35DEL; I35del
  • NC_000023.11:g.154546047TGA[2]
  • NG_009015.2:g.6519CAT[2]
  • NG_009896.1:g.8804TGA[2]
  • NM_000402.4:c.192CAT[2]
  • NM_001042351.3:c.102CAT[2]
  • NM_001099856.6:c.189+3594ATG[2]
  • NM_001321396.3:c.-16+3659ATG[2]
  • NM_001360016.2:c.102CAT[2]MANE SELECT
  • NM_001377312.1:c.-16+4655ATG[2]
  • NM_001377313.1:c.-16+4655ATG[2]
  • NP_000393.4:p.Ile66del
  • NP_001035810.1:p.Ile36del
  • NP_001346945.1:p.Ile36del
  • LRG_70:g.8804TGA[2]
  • NC_000023.10:g.153774262TGA[2]
  • NC_000023.10:g.153774268_153774270delTGA
Protein change:
I36del; ILE35DEL
OMIM: 305900.0041; dbSNP: rs137852338
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000402.4:c.192CAT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042351.3:c.102CAT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001360016.2:c.102CAT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001099856.6:c.189+3594ATG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321396.3:c.-16+3659ATG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377312.1:c.-16+4655ATG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377313.1:c.-16+4655ATG[2] - intron variant - [Sequence Ontology: SO:0001627]


Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Hemolytic anemia due to G6PD deficiency; Glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to
MedGen: C2720289; OMIM: 300908

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000031368OMIMno assertion criteria providedPathogenic
(Mar 14, 1991)
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



Deficiency in red blood cells.

MacDonald D, Town M, Mason P, Vulliamy T, Luzzatto L, Goff DK.

Nature. 1991 Mar 14;350(6314):115. No abstract available.

PubMed [citation]

Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase.

Kanno H, Huang IY, Kan YW, Yoshida A.

Cell. 1989 Aug 11;58(3):595-606.

PubMed [citation]

Details of each submission

From OMIM, SCV000031368.2

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


Using a PCR-based technique, MacDonald et al. (1991) determined the nucleotide sequence of the entire coding region of the G6PD gene from a person with severe red cell G6PD deficiency and chronic hemolytic anemia (300908). The only abnormality found was a 3-bp deletion in exon 2, which predicted the loss of 1 of 2 adjacent isoleucine residues (amino acid 35 or 36), just upstream of the methionine residue called 'junctional' by Kanno et al. (1989). This part of exon 2 lies in a region that was thought by Kanno et al. (1989) to be encoded by a gene on chromosome 6, an idea subsequently disproved. The observations of MacDonald et al. (1991) demonstrated that a mutation in this X-linked amino-terminal region of G6PD caused deficiency in red cells. The deletion was within a 3-fold CAT repeat and had presumably resulted from misalignment at meiosis, with conservation of the reading frame.

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

Last Updated: May 28, 2021

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