NM_000308.4(CTSA):c.306+7G>C AND Combined deficiency of sialidase AND beta galactosidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003878982.1
Allele description [Variation Report for NM_000308.4(CTSA):c.306+7G>C]
NM_000308.4(CTSA):c.306+7G>C
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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cytochrome oxidase subunit 1, partial (mitochondrion) [Actinopterygii environmen...
cytochrome oxidase subunit 1, partial (mitochondrion) [Actinopterygii environmental sample]gi|1495973821|gb|AYN71844.1|Protein
-
NADH dehydrogenase subunit 1, partial (mitochondrion) [Coris batuensis]
NADH dehydrogenase subunit 1, partial (mitochondrion) [Coris batuensis]gi|52693721|dbj|BAD51871.1|Protein
-
coronin-1B [Rattus norvegicus]
coronin-1B [Rattus norvegicus]gi|1937369342|ref|NP_062095.2|Protein
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Last Updated: Mar 5, 2024