NM_000487.6(ARSA):c.823G>A (p.Glu275Lys) AND Metachromatic leukodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002979566.2
Allele description [Variation Report for NM_000487.6(ARSA):c.823G>A (p.Glu275Lys)]
NM_000487.6(ARSA):c.823G>A (p.Glu275Lys)
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
-
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNA
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNAgi|142374254|ref|NM_024226.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024