NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766125.1
Allele description [Variation Report for NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)]
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-B (MPS3B)
- Synonyms:
- NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920
-
SRX2635342 (1)
SRA
-
DNA mismatch repair protein MutS [Lysobacter sp. HDW10]
DNA mismatch repair protein MutS [Lysobacter sp. HDW10]gi|1821135702|gnl|PRJNA609858|G7069 5|gb|QIK82178.1|Protein
-
N-Terminal Acetyltransferase C
N-Terminal Acetyltransferase CAn N-terminal acetyltransferase subtype that consists of the Naa30p catalytic subunit, and the Naa35p and Naa38p auxiliary subunits. It has specificity for the N-terminal METH...<br/>Year introduced: 2013MeSH
-
N,N-Dimethyltryptamine
N,N-DimethyltryptamineAn N-methylated indoleamine derivative and serotonergic hallucinogen which occurs naturally and ubiquitously in several plant species including Psychotria veridis. It also occ...<br/>Year introduced: 1991(1989)MeSH
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024