NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000256455.8
Allele description [Variation Report for NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)]
NM_000308.4(CTSA):c.51_54delinsC (p.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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ribosomal protein S11 (mitochondrion) [Laminaria digitata]
ribosomal protein S11 (mitochondrion) [Laminaria digitata]gi|21450007|ref|NP_659269.1|Protein
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AV959419 Nori Satoh unpublished cDNA library, young adult Ciona intestinalis cDN...
AV959419 Nori Satoh unpublished cDNA library, young adult Ciona intestinalis cDNA clone ciad12p15 5', mRNA sequencegi|19447718|gnl|dbEST|11686147|dbj| 419.1|Nucleotide
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Homo sapiens carboxylesterase 7, mRNA (cDNA clone IMAGE:5174937)
Homo sapiens carboxylesterase 7, mRNA (cDNA clone IMAGE:5174937)gi|25058132|gb|BC039073.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024