NM_000308.4(CTSA):c.52C>T (p.Leu18=) AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003597875.2
Allele description [Variation Report for NM_000308.4(CTSA):c.52C>T (p.Leu18=)]
NM_000308.4(CTSA):c.52C>T (p.Leu18=)
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
-
UI-M-EH0p-bvn-p-01-0-UI.r1 NIH_BMAP_EH0p Mus musculus cDNA clone IMAGE:5694576 5...
UI-M-EH0p-bvn-p-01-0-UI.r1 NIH_BMAP_EH0p Mus musculus cDNA clone IMAGE:5694576 5', mRNA sequencegi|19427261|gnl|dbEST|11665696|gb|B 76.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024