ClinVar

NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154532989 (on Assembly GRCh38)
• ChrX: 153761204 (on Assembly GRCh37)

Preferred name:

NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)

Other names:

G6PD Fushan

HGVS:

• NC_000023.11:g.154532989G>T
• NG_009015.2:g.19584C>A
• NM_000402.4:c.1094C>A
• NM_001042351.3:c.1004C>A
• NM_001360016.2:c.1004C>AMANE SELECT
• NP_000393.4:p.Ala365Asp
• NP_001035810.1:p.Ala335Asp
• NP_001346945.1:p.Ala335Asp
• NC_000023.10:g.153761204G>T
• NM_001042351.1:c.1004C>A
• NM_001360016.2:c.1004C>A

This HGVS expression did not pass validation

Protein change:

A335D

Links:

dbSNP: rs1557229854

NCBI 1000 Genomes Browser:

rs1557229854

Molecular consequence:

• NM_000402.4:c.1094C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042351.3:c.1004C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360016.2:c.1004C>A - missense variant - [Sequence Ontology: SO:0001583]