ClinVar

NM_000152.5(GAA):c.993G>A (p.Arg331=)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80108327 (on Assembly GRCh38)
• Chr17: 78082126 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.993G>A (p.Arg331=)

HGVS:

• NC_000017.11:g.80108327G>A
• NG_009822.1:g.11772G>A
• NM_000152.5:c.993G>AMANE SELECT
• NM_001079803.3:c.993G>A
• NM_001079804.3:c.993G>A
• NP_000143.2:p.Arg331=
• NP_001073271.1:p.Arg331=
• NP_001073272.1:p.Arg331=
• LRG_673:g.11772G>A
• NC_000017.10:g.78082126G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs749831587

NCBI 1000 Genomes Browser:

rs749831587

Molecular consequence:

• NM_000152.5:c.993G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079803.3:c.993G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079804.3:c.993G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1