NM_000308.4(CTSA):c.91G>A (p.Asp31Asn) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002003628.5
Allele description [Variation Report for NM_000308.4(CTSA):c.91G>A (p.Asp31Asn)]
NM_000308.4(CTSA):c.91G>A (p.Asp31Asn)
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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Homo sapiens progestin and adipoQ receptor family member IV, mRNA (cDNA clone MG...
Homo sapiens progestin and adipoQ receptor family member IV, mRNA (cDNA clone MGC:45371 IMAGE:4154019), complete cdsgi|21707420|gb|BC033703.1|Nucleotide
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Last Updated: Sep 29, 2024