NM_000046.5(ARSB):c.387G>A (p.Leu129=) AND Mucopolysaccharidosis type 6
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002076105.5
Allele description [Variation Report for NM_000046.5(ARSB):c.387G>A (p.Leu129=)]
NM_000046.5(ARSB):c.387G>A (p.Leu129=)
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
-
Tssr76554 AND (alive[prop]) (0)
Gene
-
Influenza A virus (A/Milan/568/2009(H1N1)) segment 4 hemagglutinin (HA) gene, pa...
Influenza A virus (A/Milan/568/2009(H1N1)) segment 4 hemagglutinin (HA) gene, partial cdsgi|283831896|gb|GU451278.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024