NM_000308.4(CTSA):c.57A>G (p.Leu19=) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003053886.3
Allele description [Variation Report for NM_000308.4(CTSA):c.57A>G (p.Leu19=)]
NM_000308.4(CTSA):c.57A>G (p.Leu19=)
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
-
ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) [Homo sapiens]
ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) [Homo sapiens]Gene ID:150000Gene
-
150000[uid] AND (alive[prop]) (1)
Gene
-
Synthetic construct Homo sapiens clone IMAGE:100068975, MGC:198986 ubiquitin spe...
Synthetic construct Homo sapiens clone IMAGE:100068975, MGC:198986 ubiquitin specific peptidase 51 (USP51) mRNA, encodes complete proteingi|225000461|gb|BC172281.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024