NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs) AND Spongy degeneration of central nervous system
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003605333.2
Allele description [Variation Report for NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs)]
NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs)
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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Verticillium dahliae strain BC-COL internal transcribed spacer 1, partial sequen...
Verticillium dahliae strain BC-COL internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|2778389979|gb|PQ096068.1|Nucleotide
-
Verticillium dahliae isolate 6-3 internal transcribed spacer 1, partial sequence...
Verticillium dahliae isolate 6-3 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|2745573296|gb|PP934163.1|Nucleotide
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Ribes ussuriense isolate Bar23 haplotype h1 photosystem II protein K (psbK) gene...
Ribes ussuriense isolate Bar23 haplotype h1 photosystem II protein K (psbK) gene, partial cds; psbK-psbI intergenic spacer, complete sequence; and photosystem II protein I (psbI) gene, partial cds; chloroplastgi|2326810123|gb|OP599936.1|Nucleotide
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DENN domain-containing protein 4B isoform X5 [Homo sapiens]
DENN domain-containing protein 4B isoform X5 [Homo sapiens]gi|2462516044|ref|XP_054195898.1|Protein
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Homo sapiens CYFIP related Rac1 interactor B (CYRIB), transcript variant 49, mRN...
Homo sapiens CYFIP related Rac1 interactor B (CYRIB), transcript variant 49, mRNAgi|1677500037|ref|NM_001353287.2|Nucleotide
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Last Updated: Oct 26, 2024