ClinVar

NM_000152.5(GAA):c.955+13C>T

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80107909 (on Assembly GRCh38)
• Chr17: 78081708 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.955+13C>T

HGVS:

• NC_000017.11:g.80107909C>T
• NG_009822.1:g.11354C>T
• NM_000152.5:c.955+13C>TMANE SELECT
• NM_001079803.3:c.955+13C>T
• NM_001079804.3:c.955+13C>T
• NM_001406741.1:c.955+13C>T
• NM_001406742.1:c.955+13C>T
• LRG_673:g.11354C>T
• NC_000017.10:g.78081708C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000152.5:c.955+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001079803.3:c.955+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001079804.3:c.955+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406741.1:c.955+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406742.1:c.955+13C>T - intron variant - [Sequence Ontology: SO:0001627]