NM_000049.4(ASPA):c.160A>C (p.Asn54His) AND Spongy degeneration of central nervous system
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002046315.11
Allele description
NM_000049.4(ASPA):c.160A>C (p.Asn54His)
Condition(s)
- Name:
- Spongy degeneration of central nervous system
- Synonyms:
- Canavan disease; Canavan-van Bogaert-Bertrand disease; Spongy degeneration of the central nervous system; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010079; MedGen: C0206307; Orphanet: 141; OMIM: 271900
Assertion and evidence details
Last Updated: Sep 16, 2024