ClinVar

NM_000152.5(GAA):c.-2C>T

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80104585 (on Assembly GRCh38)
• Chr17: 78078384 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.-2C>T

HGVS:

• NC_000017.11:g.80104585C>T
• NG_009822.1:g.8030C>T
• NM_000152.5:c.-2C>TMANE SELECT
• NM_001079803.3:c.-2C>T
• NM_001079804.3:c.-2C>T
• NM_001406741.1:c.-2C>T
• NM_001406742.1:c.-2C>T
• LRG_673t1:c.-2C>T
• LRG_673:g.8030C>T
• NC_000017.10:g.78078384C>T
• NM_000152.3:c.-2C>T
• NM_000152.4:c.-2C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs560511228

NCBI 1000 Genomes Browser:

rs560511228

Molecular consequence:

• NM_000152.5:c.-2C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001079803.3:c.-2C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001079804.3:c.-2C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001406741.1:c.-2C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001406742.1:c.-2C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]