NM_000308.4(CTSA):c.693-3C>T AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000400859.6
Allele description [Variation Report for NM_000308.4(CTSA):c.693-3C>T]
NM_000308.4(CTSA):c.693-3C>T
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
-
Chain A, insulin receptor, kinase domain
Chain A, insulin receptor, kinase domaingi|238537781|pdb|3ETA|AProtein
-
Homo sapiens isolate 43E NK2 transcription factor related locus 5 (NKX2-5) gene,...
Homo sapiens isolate 43E NK2 transcription factor related locus 5 (NKX2-5) gene, exon 2 and partial cdsgi|119351758|gb|EF122337.1|Nucleotide
-
RecName: Full=Putative uncharacterized protein C1orf220
RecName: Full=Putative uncharacterized protein C1orf220gi|74744307|sp|Q5T0J3.1|CA220_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023