ClinVar

NM_000152.5(GAA):c.598G>T (p.Val200Phe)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80105800 (on Assembly GRCh38)
• Chr17: 78079599 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.598G>T (p.Val200Phe)

HGVS:

• NC_000017.11:g.80105800G>T
• NG_009822.1:g.9245G>T
• NM_000152.5:c.598G>TMANE SELECT
• NM_001079803.3:c.598G>T
• NM_001079804.3:c.598G>T
• NM_001406741.1:c.598G>T
• NM_001406742.1:c.598G>T
• NP_000143.2:p.Val200Phe
• NP_000143.2:p.Val200Phe
• NP_001073271.1:p.Val200Phe
• NP_001073272.1:p.Val200Phe
• NP_001393670.1:p.Val200Phe
• NP_001393671.1:p.Val200Phe
• LRG_673t1:c.598G>T
• LRG_673:g.9245G>T
• LRG_673p1:p.Val200Phe
• NC_000017.10:g.78079599G>T
• NM_000152.3:c.598G>T

This HGVS expression did not pass validation

Protein change:

V200F

Molecular consequence:

• NM_000152.5:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079803.3:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079804.3:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406741.1:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406742.1:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]