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:
- RCV001503557.6
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
-
RecName: Full=Kappa-actitoxin-Aer3a; Short=Kappa-AITX-Aer3a; AltName: Full=AnerK...
RecName: Full=Kappa-actitoxin-Aer3a; Short=Kappa-AITX-Aer3a; AltName: Full=AnerK; AltName: Full=Potassium channel toxin AETX K; Flags: Precursorgi|121953299|sp|Q0EAE5.1|K1A_ANEERProtein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024