NM_000046.5(ARSB):c.456G>T (p.Arg152=) AND Mucopolysaccharidosis type 6
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000632188.9
Allele description [Variation Report for NM_000046.5(ARSB):c.456G>T (p.Arg152=)]
NM_000046.5(ARSB):c.456G>T (p.Arg152=)
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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Homologene neighbors for GEO Profiles (Select 125685838) (0)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 125685838) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 125694624) (20)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 77900795) (199)
GEO Profiles
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Transcription factor E2-2 haplodeficiency effect on systemic lupus erythematosus...
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024