NM_000262.3(NAGA):c.760-7C>A AND Alpha-N-acetylgalactosaminidase deficiency type 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000396104.5
Allele description [Variation Report for NM_000262.3(NAGA):c.760-7C>A]
NM_000262.3(NAGA):c.760-7C>A
Condition(s)
- Name:
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Synonyms:
- ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II; NAGA DEFICIENCY, TYPE II; SCHINDLER DISEASE, TYPE II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012222; MedGen: C1836522; Orphanet: 3137; Orphanet: 79280; OMIM: 609242
Assertion and evidence details
Last Updated: Sep 29, 2024