NM_000152.5(GAA):c.1241del (p.Phe414fs) AND Glycogen storage disease, type II
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003502025.2
Allele description [Variation Report for NM_000152.5(GAA):c.1241del (p.Phe414fs)]
NM_000152.5(GAA):c.1241del (p.Phe414fs)
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
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SRP001956 (1)
SRA
-
RecName: Full=GTP-binding protein Di-Ras2; AltName: Full=Distinct subgroup of th...
RecName: Full=GTP-binding protein Di-Ras2; AltName: Full=Distinct subgroup of the Ras family member 2; Flags: Precursorgi|62286631|sp|Q96HU8.1|DIRA2_HUMANProtein
-
Syndromic craniosynostosis
Syndromic craniosynostosisMedGen
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Long-term developmental outcome of children of women with epilepsy, unexposed or...
Long-term developmental outcome of children of women with epilepsy, unexposed or exposed prenatally to antiepileptic drugs: a meta-analysis of cohort studies - Database of Abstracts of Reviews of Effects (DARE): Quality-assessed Reviews
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Endothelin-3
Endothelin-3A 21-amino acid peptide that circulates in the plasma, but its source is not known. Endothelin-3 has been found in high concentrations in the brain and may regulate important ...<br/>Year introduced: 1997MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024