NM_000487.6(ARSA):c.1446C>A (p.Gly482=) AND Metachromatic leukodystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001490849.6
Allele description
NM_000487.6(ARSA):c.1446C>A (p.Gly482=)
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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Leiognathus equula D-loop, partial sequence; mitochondrial.
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Chain B, Protein kinase
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Aplasia/Hypoplasia of the 3rd finger
Aplasia/Hypoplasia of the 3rd fingerMedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024