NM_000027.4(AGA):c.95A>C (p.Asn32Thr) AND Aspartylglucosaminuria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000276418.5
Allele description [Variation Report for NM_000027.4(AGA):c.95A>C (p.Asn32Thr)]
NM_000027.4(AGA):c.95A>C (p.Asn32Thr)
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
-
Chain G, Histone H2A type 1
Chain G, Histone H2A type 1gi|2700920804|pdb|8V7L|GProtein
-
Chain J, Widom 601 DNA (147-mer) with 60 base pairs flanking DNA (forward strand...
Chain J, Widom 601 DNA (147-mer) with 60 base pairs flanking DNA (forward strand)gi|2700920807|pdb|8V7L|JNucleotide
-
Chain D, Histone H2B
Chain D, Histone H2Bgi|2700920801|pdb|8V7L|DProtein
-
CBXT5019.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8887089 5', mR...
CBXT5019.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8887089 5', mRNA sequencegi|133809895|gnl|dbEST|45239502|gb| 542.1|Nucleotide
-
CR439758 XGC-tailbud Xenopus tropicalis cDNA clone TTbA069b14 5', mRNA sequence
CR439758 XGC-tailbud Xenopus tropicalis cDNA clone TTbA069b14 5', mRNA sequencegi|48965345|gnl|dbEST|23833973|emb| 758.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 9, 2023