NM_000049.4(ASPA):c.841G>A (p.Val281Met) AND Spongy degeneration of central nervous system
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001451956.15
Allele description [Variation Report for NM_000049.4(ASPA):c.841G>A (p.Val281Met)]
NM_000049.4(ASPA):c.841G>A (p.Val281Met)
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
-
PREDICTED: Taeniopygia guttata holocarboxylase synthetase (HLCS), transcript var...
PREDICTED: Taeniopygia guttata holocarboxylase synthetase (HLCS), transcript variant X1, mRNAgi|2043821088|ref|XM_030284339.3|Nucleotide
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Last Updated: Oct 13, 2024