ClinVar

NM_001360016.2(G6PD):c.-32G>T

Genes:

LOC129929052:ATAC-STARR-seq lymphoblastoid silent region 21114 [Gene]
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
LOC107181288:origin of replication in promoter of G6PD [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154546812 (on Assembly GRCh38)
• ChrX: 153775027 (on Assembly GRCh37)

Preferred name:

NM_001360016.2(G6PD):c.-32G>T

HGVS:

• NC_000023.11:g.154546812C>A
• NG_009015.2:g.5761G>T
• NG_009896.1:g.9569C>A
• NG_046714.1:g.402C>A
• NG_162109.1:g.185C>A
• NM_000402.4:c.59G>T
• NM_001042351.3:c.-8-649G>T
• NM_001099856.6:c.189+4360C>A
• NM_001321396.3:c.-16+4425C>A
• NM_001360016.2:c.-32G>TMANE SELECT
• NM_001377312.1:c.-15-5176C>A
• NM_001377313.1:c.-15-5176C>A
• NP_000393.4:p.Gly20Val
• LRG_70:g.9569C>A
• NC_000023.10:g.153775027C>A

This HGVS expression did not pass validation

Protein change:

G20V

Molecular consequence:

• NM_001360016.2:c.-32G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001042351.3:c.-8-649G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099856.6:c.189+4360C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321396.3:c.-16+4425C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377312.1:c.-15-5176C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377313.1:c.-15-5176C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000402.4:c.59G>T - missense variant - [Sequence Ontology: SO:0001583]