NM_000512.5(GALNS):c.832G>A (p.Ala278Thr) AND Mucopolysaccharidosis, MPS-IV-A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001219175.6
Allele description [Variation Report for NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)]
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-IV-A (MPS4A)
- Synonyms:
- MPS IVA; Morquio syndrome A; MPS 4A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009659; MedGen: C0086651; Orphanet: 309297; Orphanet: 582; OMIM: 253000
-
NADH-quinone oxidoreductase subunit NuoF [Chryseobacterium manosquense]
NADH-quinone oxidoreductase subunit NuoF [Chryseobacterium manosquense]gi|1905001231|gnl|PRJNA646415|H0S70 5|gb|QNS42507.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 7, 2023