NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) AND Alpha-N-acetylgalactosaminidase deficiency type 1
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000319000.16
Allele description [Variation Report for NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)]
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
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
-
S41 family peptidase [Marinobacter salinisoli]
S41 family peptidase [Marinobacter salinisoli]gi|1998442697|gnl|PRJNA661177|LPB19 0|gb|QSP96407.1|Protein
-
peptidase S41 [Anaeromyxobacter oryzae]
peptidase S41 [Anaeromyxobacter oryzae]gi|2199268554|dbj|BDG04325.1|Protein
-
LOC115177271 [Salmo trutta]
LOC115177271 [Salmo trutta]Gene ID:115177271Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024