NM_000487.6(ARSA):c.343G>A (p.Ala115Thr) AND Metachromatic leukodystrophy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001063277.7
Allele description [Variation Report for NM_000487.6(ARSA):c.343G>A (p.Ala115Thr)]
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr)
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
-
alpha-soluble NSF attachment protein [Achlya hypogyna]
alpha-soluble NSF attachment protein [Achlya hypogyna]gi|1173937050|gb|OQR87913.1||gnl|WG R|ACHHYP_07927.1Protein
-
alphasoluble NSF attachment protein putative [Albugo laibachii Nc14]
alphasoluble NSF attachment protein putative [Albugo laibachii Nc14]gi|325182086|emb|CCA16540.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024