ClinVar

NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80110736 (on Assembly GRCh38)
• Chr17: 78084535 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)

Other names:

NM_000152.5(GAA):c.1447G>A

HGVS:

• NC_000017.11:g.80110736G>A
• NG_009822.1:g.14181G>A
• NM_000152.5:c.1447G>AMANE SELECT
• NM_001079803.3:c.1447G>A
• NM_001079804.3:c.1447G>A
• NP_000143.2:p.Gly483Arg
• NP_001073271.1:p.Gly483Arg
• NP_001073272.1:p.Gly483Arg
• LRG_673t1:c.1447G>A
• LRG_673:g.14181G>A
• NC_000017.10:g.78084535G>A
• NM_000152.3:c.1447G>A
• NM_000152.4(GAA):c.1447G>A
• NM_000152.4:c.1447G>A
• p.Gly483Arg

This HGVS expression did not pass validation

Protein change:

G483R

Links:

dbSNP: rs770590394

NCBI 1000 Genomes Browser:

rs770590394

Molecular consequence:

• NM_000152.5:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079803.3:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079804.3:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1