ClinVar

NM_000152.5(GAA):c.265C>T (p.Arg89Cys)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80104851 (on Assembly GRCh38)
• Chr17: 78078650 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.265C>T (p.Arg89Cys)

Other names:

NM_000152.5(GAA):c.265C>T; p.Arg89Cys

HGVS:

• NC_000017.11:g.80104851C>T
• NG_009822.1:g.8296C>T
• NM_000152.5:c.265C>TMANE SELECT
• NM_001079803.3:c.265C>T
• NM_001079804.3:c.265C>T
• NP_000143.2:p.Arg89Cys
• NP_001073271.1:p.Arg89Cys
• NP_001073272.1:p.Arg89Cys
• LRG_673t1:c.265C>T
• LRG_673:g.8296C>T
• NC_000017.10:g.78078650C>T
• NM_000152.3:c.265C>T

This HGVS expression did not pass validation

Protein change:

R89C

Links:

dbSNP: rs534192892

NCBI 1000 Genomes Browser:

rs534192892

Molecular consequence:

• NM_000152.5:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079803.3:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079804.3:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]