ClinVar

NM_000152.5(GAA):c.370C>G (p.Gln124Glu)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80104956 (on Assembly GRCh38)
• Chr17: 78078755 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.370C>G (p.Gln124Glu)

HGVS:

• NC_000017.11:g.80104956C>G
• NG_009822.1:g.8401C>G
• NM_000152.5:c.370C>GMANE SELECT
• NM_001079803.3:c.370C>G
• NM_001079804.3:c.370C>G
• NP_000143.2:p.Gln124Glu
• NP_001073271.1:p.Gln124Glu
• NP_001073272.1:p.Gln124Glu
• LRG_673t1:c.370C>G
• LRG_673:g.8401C>G
• NC_000017.10:g.78078755C>G
• NM_000152.3:c.370C>G

This HGVS expression did not pass validation

Protein change:

Q124E

Links:

dbSNP: rs1291571294

NCBI 1000 Genomes Browser:

rs1291571294

Molecular consequence:

• NM_000152.5:c.370C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079803.3:c.370C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079804.3:c.370C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1