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:
- RCV001449125.16
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
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Pedicularis densispica aminoacyl-tRNA ligase-like gene, partial sequence
Pedicularis densispica aminoacyl-tRNA ligase-like gene, partial sequencegi|1690492169|gb|MK588571.1|Nucleotide
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Homo sapiens mRNA; cDNA DKFZp761E1512 (from clone DKFZp761E1512)
Homo sapiens mRNA; cDNA DKFZp761E1512 (from clone DKFZp761E1512)gi|7018453|emb|AL157424.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024