NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Benign (1 submission)
- 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:
- RCV000954191.10
Allele description [Variation Report for NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup)]
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup)
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
-
PREDICTED: Macaca mulatta prostaglandin reductase 2 (PTGR2), transcript variant ...
PREDICTED: Macaca mulatta prostaglandin reductase 2 (PTGR2), transcript variant X1, mRNAgi|1622956216|ref|XM_001091894.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024