NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) AND Mucopolysaccharidosis type 6
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000632185.4
Allele description [Variation Report for NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)]
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)
Condition(s)
- Name:
- Mucopolysaccharidosis type 6 (MPS6)
- Synonyms:
- MPS VI; Mucopolysaccharidosis type VI; MPS 6; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009661; MedGen: C0026709; Orphanet: 583; OMIM: 253200
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UI-M-DJ2-bwc-g-18-0-UI.s1 NIH_BMAP_DJ2 Mus musculus cDNA clone UI-M-DJ2-bwc-g-18-0-UI 3', mRNA sequencegi|20350755|gnl|dbEST|12185493|gb|B 63.1|Nucleotide
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Mus musculus tousled-like kinase 2 (Arabidopsis) (Tlk2), transcript variant F, m...
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Last Updated: Aug 5, 2023