NM_000404.4(GLB1):c.295T>A (p.Ser99Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001894777.5
Allele description [Variation Report for NM_000404.4(GLB1):c.295T>A (p.Ser99Thr)]
NM_000404.4(GLB1):c.295T>A (p.Ser99Thr)
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
-
groundwater metagenome
groundwater metagenomeSorted cell/s from groundwater in Star Diamonds mine, Free Sate, South Africa - Candidate_division_AC1_(TA06)_bacterium_AG-188-O06 metagenomeBioProject
-
LOC106327781 [Brassica oleracea]
LOC106327781 [Brassica oleracea]Gene ID:106327781Gene
-
LOC117636488 [Prunus dulcis]
LOC117636488 [Prunus dulcis]Gene ID:117636488Gene
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024