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:
- RCV002046315.12
Allele description [Variation Report for NM_000049.4(ASPA):c.160A>C (p.Asn54His)]
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
-
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Ephydroidea NADH dehydrogenase subunit 4L (ND4L) gene, partial cds; tRNA-Thr and tRNA-Pro genes, complete sequence; and NADH dehydrogenase subunit 6 (ND6) gene, partial cds; mitochondrial.PopSet: 188502071PopSet
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Homo sapiens uroplakin II mRNA, complete cds
Homo sapiens uroplakin II mRNA, complete cdsgi|38385726|gb|AY455312.1|Nucleotide
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LOC129664818 [Homo sapiens]
LOC129664818 [Homo sapiens]Gene ID:129664818Gene
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024