NM_000152.5(GAA):c.2647-23del AND Glycogen storage disease, type II
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000673541.10
Allele description [Variation Report for NM_000152.5(GAA):c.2647-23del]
NM_000152.5(GAA):c.2647-23del
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
-
PREDICTED: Homo sapiens signal regulatory protein beta 2 (SIRPB2), transcript va...
PREDICTED: Homo sapiens signal regulatory protein beta 2 (SIRPB2), transcript variant X8, mRNAgi|2462580262|ref|XM_054323394.1|Nucleotide
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Last Updated: Feb 28, 2024