ClinVar

NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)

Gene:

G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154532969 (on Assembly GRCh38)
• ChrX: 153761184 (on Assembly GRCh37)

Preferred name:

NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)

Other names:

G6PD, LEU342PHE; G6PD Chinese-5; G6PD Mahidol-like

HGVS:

• NC_000023.11:g.154532969G>A
• NG_009015.2:g.19604C>T
• NM_000402.4:c.1114C>T
• NM_001042351.3:c.1024C>T
• NM_001360016.2:c.1024C>TMANE SELECT
• NP_000393.4:p.Leu372Phe
• NP_001035810.1:p.Leu342Phe
• NP_001035810.1:p.Leu342Phe
• NP_001346945.1:p.Leu342Phe
• NC_000023.10:g.153761184G>A
• NM_001042351.1:c.1024C>T
• NM_001042351.3:c.1024C>T

This HGVS expression did not pass validation

Protein change:

L342F; LEU342PHE

Links:

OMIM: 305900.0046; dbSNP: rs137852342

NCBI 1000 Genomes Browser:

rs137852342

Molecular consequence:

• NM_000402.4:c.1114C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042351.3:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360016.2:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1