NM_000404.4(GLB1):c.1647G>C (p.Pro549=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003009736.2
Allele description
NM_000404.4(GLB1):c.1647G>C (p.Pro549=)
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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Accipiter gentilis chromosome 24, bAccGen1.1, whole genome shotgun sequence
Accipiter gentilis chromosome 24, bAccGen1.1, whole genome shotgun sequencegi|2277734288|gnl|ASM:GCF_929443794 R_24|ref|NC_064903.1||gpp|GPC_000014158.1||gnl|NCBI_GENOMES|125137Nucleotide
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Accipiter gentilis chromosome 37, bAccGen1.1, whole genome shotgun sequence
Accipiter gentilis chromosome 37, bAccGen1.1, whole genome shotgun sequencegi|2277734275|gnl|ASM:GCF_929443794 R_37|ref|NC_064916.1||gpp|GPC_000014171.1||gnl|NCBI_GENOMES|125150Nucleotide
-
Accipiter gentilis genome assembly, chromosome: 15
Accipiter gentilis genome assembly, chromosome: 15gi|2191808362|emb|OV839376.1|Nucleotide
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PREDICTED: Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), transcr...
PREDICTED: Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), transcript variant X2, mRNAgi|2217266169|ref|XM_011541180.3|Nucleotide
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Last Updated: Feb 28, 2024