NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002862722.3
Allele description [Variation Report for NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)]
NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-C (MPS3C)
- Synonyms:
- Mucopoly-saccharidosis type 3C; Sanfilippo syndrome C; Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009657; MedGen: C0086649; Orphanet: 581; Orphanet: 79271; OMIM: 252930
-
pde9ab [Oncorhynchus nerka]
pde9ab [Oncorhynchus nerka]Gene ID:115136093Gene
-
LOC128179305 [Magallana angulata]
LOC128179305 [Magallana angulata]Gene ID:128179305Gene
-
AGENCOURT_13044111 NICHD_XGC_Te1 Xenopus laevis cDNA clone IMAGE:6929435 5', mRN...
AGENCOURT_13044111 NICHD_XGC_Te1 Xenopus laevis cDNA clone IMAGE:6929435 5', mRNA sequencegi|29509302|gnl|dbEST|17327518|gb|C 46.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024