NM_000262.3(NAGA):c.543C>T (p.Arg181=) AND Alpha-N-acetylgalactosaminidase deficiency type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003881395.2
Allele description [Variation Report for NM_000262.3(NAGA):c.543C>T (p.Arg181=)]
NM_000262.3(NAGA):c.543C>T (p.Arg181=)
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
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Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), isoform 2 (SLC...
Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), isoform 2 (SLC9A2), mRNAgi|15529997|ref|NM_003048.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024