NM_000487.6(ARSA):c.*624G>T AND Metachromatic leukodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001150506.4
Allele description [Variation Report for NM_000487.6(ARSA):c.*624G>T]
NM_000487.6(ARSA):c.*624G>T
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
-
Callosities
CallositiesLocalized hyperplasia of the horny layer of the epidermis due to pressure or friction. (Dorland, 27th ed)<br/>Year introduced: CORNS was heading 1975-1992 (see under CALLOSITIES 1975-1990)MeSH
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Last Updated: Apr 9, 2023