NM_000642.3(AGL):c.1747G>A (p.Ala583Thr) AND Glycogen storage disease type III
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001940992.5
Allele description [Variation Report for NM_000642.3(AGL):c.1747G>A (p.Ala583Thr)]
NM_000642.3(AGL):c.1747G>A (p.Ala583Thr)
Condition(s)
- Name:
- Glycogen storage disease type III (GSD3)
- Synonyms:
- Glycogen storage disease type 3; Forbes disease; Cori disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009291; MedGen: C0017922; Orphanet: 366; OMIM: 232400
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Salmo trutta trutta isolate F7741_Wuem control region, partial sequence; mitocho...
Salmo trutta trutta isolate F7741_Wuem control region, partial sequence; mitochondrialgi|1859640987|gb|MT271679.1|Nucleotide
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cytochrome oxidase subunit 1, partial (mitochondrion) [Ischnura abyssinica]
cytochrome oxidase subunit 1, partial (mitochondrion) [Ischnura abyssinica]gi|1573759357|gb|QBC75925.1|Protein
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PubChem Substance Links for Gene (Select 653145) (59)
PubChem Substance
-
Related DataSets for GEO Profiles (Select 108814838) (1)
GEO DataSets
-
Lapatinib effect on lapatinib-resistant ErbB2-positive cell line: dose response
Lapatinib effect on lapatinib-resistant ErbB2-positive cell line: dose responseAccession: GDS4979GEO DataSets
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Last Updated: Sep 29, 2024