NM_000263.4(NAGLU):c.1524C>T (p.Ala508=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002903429.3
Allele description [Variation Report for NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)]
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)
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
-
dnaJ homolog subfamily B member 6 isoform X6 [Lingula anatina]
dnaJ homolog subfamily B member 6 isoform X6 [Lingula anatina]gi|919030710|ref|XP_013399016.1|Protein
-
NAD(P)H-dependent glycerol-3-phosphate dehydrogenase [Thermobaculum terrenum]
NAD(P)H-dependent glycerol-3-phosphate dehydrogenase [Thermobaculum terrenum]gi|502638538|ref|WP_012875020.1|Protein
-
elongation factor G [Thermobaculum terrenum]
elongation factor G [Thermobaculum terrenum]gi|502638514|ref|WP_012874996.1|Protein
-
myotubularin-related protein 3 isoform X6 [Egretta garzetta]
myotubularin-related protein 3 isoform X6 [Egretta garzetta]gi|1894707493|ref|XP_035754153.1|Protein
-
myotubularin-related protein 3 isoform X4 [Egretta garzetta]
myotubularin-related protein 3 isoform X4 [Egretta garzetta]gi|1894707489|ref|XP_035754149.1|Protein
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Last Updated: Sep 29, 2024