NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) AND Metachromatic leukodystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 2, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000779747.9
Allele description [Variation Report for NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)]
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
Condition(s)
- Name:
- Metachromatic leukodystrophy (MLD)
- Synonyms:
- Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100
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Gasteranthus lateralis voucher G:M. Perret 170 tRNA-Leu (trnL) gene, intron; and...
Gasteranthus lateralis voucher G:M. Perret 170 tRNA-Leu (trnL) gene, intron; and trnL-trnF intergenic spacer, partial sequence; plastidgi|2639990920|gb|OR160275.1|Nucleotide
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ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (plastid)...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (plastid) [Amalophyllon divaricatum]gi|1102132819|gb|APC26158.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024