ClinVar

NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154532972 (on Assembly GRCh38)
• ChrX: 153761187 (on Assembly GRCh37)

Preferred name:

NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)

HGVS:

• NC_000023.11:g.154532972C>T
• NG_009015.2:g.19601G>A
• NM_000402.4:c.1111G>A
• NM_001042351.3:c.1021G>A
• NM_001360016.2:c.1021G>AMANE SELECT
• NP_000393.4:p.Val371Ile
• NP_001035810.1:p.Val341Ile
• NP_001346945.1:p.Val341Ile
• NC_000023.10:g.153761187C>T
• NM_001042351.2:c.1021G>A

This HGVS expression did not pass validation

Protein change:

V341I

Links:

dbSNP: rs782174983

NCBI 1000 Genomes Browser:

rs782174983

Molecular consequence:

• NM_000402.4:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042351.3:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360016.2:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]