NM_000049.4(ASPA):c.279T>C (p.Ala93=) AND Spongy degeneration of central nervous system
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001449125.17
Allele description [Variation Report for NM_000049.4(ASPA):c.279T>C (p.Ala93=)]
NM_000049.4(ASPA):c.279T>C (p.Ala93=)
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
-
CSC1-like protein 1 [Homo sapiens]
CSC1-like protein 1 [Homo sapiens]gi|270288733|ref|NP_055513.2|Protein
-
Homo sapiens chromosome 22 open reading frame 28, mRNA (cDNA clone MGC:1849 IMAG...
Homo sapiens chromosome 22 open reading frame 28, mRNA (cDNA clone MGC:1849 IMAGE:3533883), complete cdsgi|12804222|gb|BC002970.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024