NM_000404.4(GLB1):c.396+7G>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002851386.3
Allele description [Variation Report for NM_000404.4(GLB1):c.396+7G>T]
NM_000404.4(GLB1):c.396+7G>T
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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CHAT [Oryx dammah]
CHAT [Oryx dammah]Gene ID:120865504Gene
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CHAT [Chelonoidis abingdonii]
CHAT [Chelonoidis abingdonii]Gene ID:116839114Gene
-
Profile neighbors for GEO Profiles (Select 34582815) (187)
GEO Profiles
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Homo sapiens chromosome 9, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 9, GRCh38.p14 Primary Assemblygi|568815589|gnl|ASM:GCF_000001305| |NC_000009.12||gpp|GPC_000001301.1||gnl|NCBI_GENOMES|9Nucleotide
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Homo sapiens ADP-ribosylarginine hydrolase, mRNA (cDNA clone MGC:75486 IMAGE:303...
Homo sapiens ADP-ribosylarginine hydrolase, mRNA (cDNA clone MGC:75486 IMAGE:30374536), complete cdsgi|39645362|gb|BC063883.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024