NM_000046.5(ARSB):c.572G>A (p.Arg191Gln) AND Mucopolysaccharidosis type 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001945158.5
Allele description [Variation Report for NM_000046.5(ARSB):c.572G>A (p.Arg191Gln)]
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln)
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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Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8873, whole genome shotgu...
Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8873, whole genome shotgun sequencegi|1432379346|gb|JOJR01008870.1||gn :JOJR01|A_caninum.1.0_Cont8873Nucleotide
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Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8382, whole genome shotgu...
Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8382, whole genome shotgun sequencegi|1432379878|gb|JOJR01008379.1||gn :JOJR01|A_caninum.1.0_Cont8382Nucleotide
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Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8373, whole genome shotgu...
Ancylostoma caninum strain Baltimore A_caninum.1.0_Cont8373, whole genome shotgun sequencegi|1432379889|gb|JOJR01008370.1||gn :JOJR01|A_caninum.1.0_Cont8373Nucleotide
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Xanthomonas oryzae pv. oryzae strain GD413 scaffold444, whole genome shotgun seq...
Xanthomonas oryzae pv. oryzae strain GD413 scaffold444, whole genome shotgun sequencegi|1426249633|ref|NZ_QNJG01000445.1 |WGS:NZ_QNJG01|scaffold444Nucleotide
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Xanthomonas oryzae pv. oryzae strain GD413 scaffold438, whole genome shotgun seq...
Xanthomonas oryzae pv. oryzae strain GD413 scaffold438, whole genome shotgun sequencegi|1426249627|ref|NZ_QNJG01000439.1 |WGS:NZ_QNJG01|scaffold438Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024