NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001268871.2
Allele description [Variation Report for NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)]
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
numb, isoform A [Drosophila melanogaster]
numb, isoform A [Drosophila melanogaster]gi|24583043|ref|NP_523523.2|Protein
-
Nup188 [Aedes albopictus]
Nup188 [Aedes albopictus]Gene ID:109430832Gene
-
cox2 [Oryza sativa Japonica Group]
cox2 [Oryza sativa Japonica Group]Gene ID:6450161Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024