NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000540896.11
Allele description [Variation Report for NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)]
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)
Condition(s)
- Name:
- Combined deficiency of sialidase AND beta galactosidase (GSL)
- Synonyms:
- CATHEPSIN A DEFICIENCY; Galactosialidosis; Goldberg syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009737; MedGen: C0268233; Orphanet: 351; OMIM: 256540
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Hynobius leechii voucher NTNUB 201703 cytochrome b (CYTB) gene, partial cds; mit...
Hynobius leechii voucher NTNUB 201703 cytochrome b (CYTB) gene, partial cds; mitochondrialgi|109716190|gb|DQ652231.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 109427151) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 109392674) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 109425933) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 109394535) (199)
GEO Profiles
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Last Updated: Oct 26, 2024