NM_000262.3(NAGA):c.503-8T>C AND Alpha-N-acetylgalactosaminidase deficiency type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003516633.2
Allele description [Variation Report for NM_000262.3(NAGA):c.503-8T>C]
NM_000262.3(NAGA):c.503-8T>C
Condition(s)
- Name:
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Synonyms:
- SCHINDLER DISEASE, TYPE I; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I; NAGA DEFICIENCY, TYPE I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012221; MedGen: C1836544; Orphanet: 3137; Orphanet: 79279; Orphanet: 79281; OMIM: 609241
Assertion and evidence details
Last Updated: Sep 29, 2024