NM_000404.4(GLB1):c.1602C>T (p.His534=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002820540.3
Allele description [Variation Report for NM_000404.4(GLB1):c.1602C>T (p.His534=)]
NM_000404.4(GLB1):c.1602C>T (p.His534=)
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
-
PREDICTED: Salvelinus alpinus calsequestrin-1-like (LOC111960032), transcript va...
PREDICTED: Salvelinus alpinus calsequestrin-1-like (LOC111960032), transcript variant X2, mRNAgi|1348665186|ref|XM_023981904.2|Nucleotide
-
PREDICTED: Homo sapiens zinc finger protein 292 (ZNF292), transcript variant X7,...
PREDICTED: Homo sapiens zinc finger protein 292 (ZNF292), transcript variant X7, mRNAgi|2217360474|ref|XM_005248697.5|Nucleotide
-
Glyptothorax major cytochrome oxidase subunit I (COI) gene, partial cds; mitocho...
Glyptothorax major cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|98990780|gb|DQ514351.1|Nucleotide
-
O-sialoglycoprotein endopeptidase [Bacillus pseudomycoides DSM 12442]
O-sialoglycoprotein endopeptidase [Bacillus pseudomycoides DSM 12442]gi|228770296|gb|EEM18872.1||gnl|WGS |bpmyx0001_2000Protein
-
Transcriptional regulator, RpiR [Bacillus pseudomycoides DSM 12442]
Transcriptional regulator, RpiR [Bacillus pseudomycoides DSM 12442]gi|228769861|gb|EEM18447.1||gnl|WGS |bpmyx0001_6930Protein
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Last Updated: Sep 29, 2024