NM_000049.4(ASPA):c.77C>T (p.Thr26Ile) AND Spongy degeneration of central nervous system
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001838861.12
Allele description [Variation Report for NM_000049.4(ASPA):c.77C>T (p.Thr26Ile)]
NM_000049.4(ASPA):c.77C>T (p.Thr26Ile)
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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Danio rerio WW domain containing adaptor with coiled-coil, mRNA (cDNA clone MGC:...
Danio rerio WW domain containing adaptor with coiled-coil, mRNA (cDNA clone MGC:55755 IMAGE:3816540), complete cdsgi|29124424|gb|BC048888.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024