NM_000027.4(AGA):c.127+8T>C AND Aspartylglucosaminuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001503557.7
Allele description [Variation Report for NM_000027.4(AGA):c.127+8T>C]
NM_000027.4(AGA):c.127+8T>C
Condition(s)
- Name:
- Aspartylglucosaminuria (AGU)
- Synonyms:
- GLYCOASPARAGINASE; Aspartylglycosaminuria; Aspartylglucos-aminuria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008830; MedGen: C0268225; Orphanet: 93; OMIM: 208400; Human Phenotype Ontology: HP:0012068
-
PREDICTED: Apteryx rowi amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase...
PREDICTED: Apteryx rowi amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant X1, mRNAgi|1444474944|ref|XM_026057674.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024