NM_000152.5(GAA):c.2040+66C>T AND Glycogen storage disease, type II
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001527138.2
Allele description [Variation Report for NM_000152.5(GAA):c.2040+66C>T]
NM_000152.5(GAA):c.2040+66C>T
Condition(s)
- Name:
- Glycogen storage disease, type II (GSD2)
- Synonyms:
- ACID ALPHA-GLUCOSIDASE DEFICIENCY; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009290; MedGen: C0017921; Orphanet: 365; OMIM: 232300
-
Rosa rubeoides (509)
BioProject
-
PREDICTED: Cucumis melo SNW/SKI-interacting protein-like (LOC103492552), mRNA
PREDICTED: Cucumis melo SNW/SKI-interacting protein-like (LOC103492552), mRNAgi|2316554872|ref|XM_008452958.3|Nucleotide
-
Curtisia dentata ribulose 1,5-bisphosphate carboxylase (rbcL) gene, partial cds;...
Curtisia dentata ribulose 1,5-bisphosphate carboxylase (rbcL) gene, partial cds; chloroplast gene for chloroplast productgi|7240169|gb|L11222.2|CUFCPRBCLNucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023