NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) AND G6PD HARILAOU

Germline classification:: other (1 submission)
Last evaluated:: Apr 18, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000011094.1

Allele description [Variation Report for NM_000402.4(G6PD):c.738T>G (p.Phe246Leu)]

NM_000402.4(G6PD):c.738T>G (p.Phe246Leu)

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.738T>G (p.Phe246Leu)

Other names:

G6PD, PHE216LEU; G6PD Harilaou

HGVS:

NC_000023.11:g.154534157A>C
NG_009015.2:g.18416T>G
NM_000402.4:c.738T>G
NM_001042351.3:c.648T>G
NM_001360016.2:c.648T>GMANE SELECT
NP_000393.4:p.Phe246Leu
NP_001035810.1:p.Phe216Leu
NP_001346945.1:p.Phe216Leu
NC_000023.10:g.153762372A>C
NM_001042351.1:c.648T>G

Protein change:

F216L; PHE216LEU

Links:

OMIM: 305900.0011; dbSNP: rs137852319

NCBI 1000 Genomes Browser:

rs137852319

Molecular consequence:

NM_000402.4:c.738T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: G6PD HARILAOU
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031321	OMIM	no assertion criteria provided	other (Apr 18, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID] Poggi, V. Personal Communication. 1989. London, England

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031321

OMIM

no assertion criteria provided

other
(Apr 18, 2013)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Poggi, V. Personal Communication. 1989. London, England

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Intragenic interspecific complementation of glucose 6-phosphate dehydrogenase in human-hamster cell hybrids.

Town M, Athanasiou-Metaxa M, Luzzatto L.

Somat Cell Mol Genet. 1990 Mar;16(2):97-108.

PubMed [citation]

PMID:: 2157298

Details of each submission

From OMIM, SCV000031321.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Town et al. (1990) described G6PD Harilaou in a Greek boy with severe hemolytic anemia. Poggi (1989) found a T-to-G change at nucleotide 648 that leads to substitution of leucine for phenylalanine at residue 216.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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