NM_000642.3(AGL):c.4327T>C (p.Phe1443Leu) AND Glycogen storage disease type III
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003088756.1
Allele description [Variation Report for NM_000642.3(AGL):c.4327T>C (p.Phe1443Leu)]
NM_000642.3(AGL):c.4327T>C (p.Phe1443Leu)
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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Homologene neighbors for GEO Profiles (Select 12610141) (0)
GEO Profiles
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1394603[uid] (1)
Taxonomy
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(("clinical guidelines"[Resource Type]) OR "practice guideline"[P... (10)
(("clinical guidelines"[Resource Type]) OR "practice guideline"[Publication Type]) AND ("Fibroadenomas")SearchBooks
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BioAssay by Target (List) for Gene (Select 23221) (12)
PubChem BioAssay
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C3279722[trait identifier] AND "GenomeConnect - Invitae Patient I... (4)
C3279722[trait identifier] AND "GenomeConnect - Invitae Patient Insights Network"[submitter]SearchClinVar
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See more...Assertion and evidence details
Last Updated: Nov 20, 2023