NM_000512.5(GALNS):c.892del (p.Glu298fs) AND Mucopolysaccharidosis, MPS-IV-A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486317.2
Allele description [Variation Report for NM_000512.5(GALNS):c.892del (p.Glu298fs)]
NM_000512.5(GALNS):c.892del (p.Glu298fs)
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
-
olee1-like protein [Medicago truncatula]
olee1-like protein [Medicago truncatula]gi|1995107076|ref|XP_013441210.2|Protein
-
PREDICTED: Brachypodium distachyon cyclic dof factor 1 (LOC100841048), mRNA
PREDICTED: Brachypodium distachyon cyclic dof factor 1 (LOC100841048), mRNAgi|1371081868|ref|XM_003573850.4|Nucleotide
-
PREDICTED: Oryza sativa Japonica Group 2-oxoglutarate-dependent dioxygenase DAO ...
PREDICTED: Oryza sativa Japonica Group 2-oxoglutarate-dependent dioxygenase DAO (LOC9266172), mRNAgi|2756244137|ref|XM_015767812.3|Nucleotide
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Last Updated: Mar 16, 2024