NM_000404.4(GLB1):c.318T>C (p.Tyr106=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003808815.2
Allele description [Variation Report for NM_000404.4(GLB1):c.318T>C (p.Tyr106=)]
NM_000404.4(GLB1):c.318T>C (p.Tyr106=)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-IV-B (MPS4B)
- Synonyms:
- MPS IVB; Morquio syndrome B; MPS 4B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009660; MedGen: C0086652; Orphanet: 582; OMIM: 253010
- Name:
- GM1 gangliosidosis
- Synonyms:
- Beta galactosidase 1 deficiency; GLB 1 deficiency
- Identifiers:
- MONDO: MONDO:0018149; MedGen: C0085131
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putative odorant binding protein 3 [Corcyra cephalonica]
putative odorant binding protein 3 [Corcyra cephalonica]gi|2124384292|gb|UDM59891.1|Protein
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putative pheromone binding protein 3 [Corcyra cephalonica]
putative pheromone binding protein 3 [Corcyra cephalonica]gi|2124384094|gb|UDM59723.1|Protein
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serine/threonine-protein kinase B-raf isoform 12 [Homo sapiens]
serine/threonine-protein kinase B-raf isoform 12 [Homo sapiens]gi|1810812889|ref|NP_001365403.1|Protein
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Corcyra cephalonica cytochrome oxidase subunit 1 (COI) gene, partial cds; mitoch...
Corcyra cephalonica cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial.PopSet: 1735238438PopSet
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Cryptobranchoidea 12S ribosomal RNA gene, partial sequence; tRNA-Val gene, compl...
Cryptobranchoidea 12S ribosomal RNA gene, partial sequence; tRNA-Val gene, complete sequence; and 16S ribosomal RNA gene, partial sequence; mitochondrial.PopSet: 62736559PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024