ClinVar

NM_000152.5(GAA):c.2226C>T (p.His742=)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80117004 (on Assembly GRCh38)
• Chr17: 78090803 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.2226C>T (p.His742=)

HGVS:

• NC_000017.11:g.80117004C>T
• NG_009822.1:g.20449C>T
• NM_000152.5:c.2226C>TMANE SELECT
• NM_001079803.3:c.2226C>T
• NM_001079804.3:c.2226C>T
• NM_001406741.1:c.2226C>T
• NM_001406742.1:c.2226C>T
• NP_000143.2:p.His742=
• NP_000143.2:p.His742=
• NP_001073271.1:p.His742=
• NP_001073272.1:p.His742=
• NP_001393670.1:p.His742=
• NP_001393671.1:p.His742=
• LRG_673t1:c.2226C>T
• LRG_673:g.20449C>T
• LRG_673p1:p.His742=
• NC_000017.10:g.78090803C>T
• NM_000152.3:c.2226C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000152.5:c.2226C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079803.3:c.2226C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079804.3:c.2226C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406741.1:c.2226C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406742.1:c.2226C>T - synonymous variant - [Sequence Ontology: SO:0001819]