ClinVar

NM_000152.5(GAA):c.2655_2656del (p.Val886fs)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80118661 - 80118662 (on Assembly GRCh38)
• Chr17: 78092460 - 78092461 (on Assembly GRCh37)

Preferred name:

NM_000152.5(GAA):c.2655_2656del (p.Val886fs)

Other names:

NM_000152.5(GAA):c.2655_2656del; p.Val886fs

HGVS:

• NC_000017.11:g.80118661_80118662del
• NG_009822.1:g.22106_22107del
• NM_000152.5:c.2655_2656delMANE SELECT
• NM_001079803.3:c.2655_2656del
• NM_001079804.3:c.2655_2656del
• NP_000143.2:p.Val886fs
• NP_001073271.1:p.Val886fs
• NP_001073272.1:p.Val886fs
• LRG_673:g.22106_22107del
• NC_000017.10:g.78092460_78092461del

This HGVS expression did not pass validation

Protein change:

V886fs

Links:

dbSNP: rs1555603219

NCBI 1000 Genomes Browser:

rs1555603219

Molecular consequence:

• NM_000152.5:c.2655_2656del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001079803.3:c.2655_2656del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001079804.3:c.2655_2656del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2