ClinVar

NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80108338 (on Assembly GRCh38)
• Chr17: 78082137 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)

HGVS:

• NC_000017.11:g.80108338G>A
• NG_009822.1:g.11783G>A
• NM_000152.5:c.1004G>AMANE SELECT
• NM_001079803.3:c.1004G>A
• NM_001079804.3:c.1004G>A
• NP_000143.2:p.Gly335Glu
• NP_001073271.1:p.Gly335Glu
• NP_001073272.1:p.Gly335Glu
• LRG_673t1:c.1004G>A
• LRG_673:g.11783G>A
• NC_000017.10:g.78082137G>A
• NM_000152.3:c.1004G>A
• P10253:p.Gly335Glu

This HGVS expression did not pass validation

Protein change:

G335E

Links:

UniProtKB: P10253#VAR_068589; dbSNP: rs730880022

NCBI 1000 Genomes Browser:

rs730880022

Molecular consequence:

• NM_000152.5:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079803.3:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079804.3:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]