NM_000404.4(GLB1):c.397-17T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003807101.2
Allele description [Variation Report for NM_000404.4(GLB1):c.397-17T>C]
NM_000404.4(GLB1):c.397-17T>C
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
-
hypothetical protein FOA52_008645, partial [Chlamydomonas sp. UWO 241]
hypothetical protein FOA52_008645, partial [Chlamydomonas sp. UWO 241]gi|1955210682|gb|KAG1651606.1||gnl| FSX|cds.scf7180000012469_CUWO241_v1.0-g8685.t1Protein
-
BL02171 AND (alive[prop]) (0)
Gene
-
BL03755 AND (alive[prop]) (0)
Gene
-
Streptomyces sp. 5-6(2022)
Streptomyces sp. 5-6(2022)Streptomyces sp. 5-6(2022) Genome sequencing and assemblyBioProject
-
TARID AND (alive[prop]) (4)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024