ClinVar

NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80118223 (on Assembly GRCh38)
• Chr17: 78092022 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)

HGVS:

• NC_000017.11:g.80118223C>T
• NG_009822.1:g.21668C>T
• NM_000152.5:c.2512C>TMANE SELECT
• NM_001079803.3:c.2512C>T
• NM_001079804.3:c.2512C>T
• NP_000143.2:p.Gln838Ter
• NP_001073271.1:p.Gln838Ter
• NP_001073272.1:p.Gln838Ter
• LRG_673t1:c.2512C>T
• LRG_673:g.21668C>T
• LRG_673p1:p.Gln838*
• NC_000017.10:g.78092022C>T
• NC_000017.10:g.78092022C>T
• NM_000152.3:c.2512C>T
• NM_000152.4(GAA):c.2512C>T
• NM_000152.5(GAA):c.2512C>TMANE SELECT
• NP_000143.2:p.Gln838*
• p.Gln838Ter

This HGVS expression did not pass validation

Protein change:

Q838*

Links:

dbSNP: rs369532274

NCBI 1000 Genomes Browser:

rs369532274

Molecular consequence:

• NM_000152.5:c.2512C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001079803.3:c.2512C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001079804.3:c.2512C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

6