NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Medulloblastoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000418024.3
Allele description [Variation Report for NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)]
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
Condition(s)
- Name:
- Medulloblastoma (MDB)
- Synonyms:
- Medulloblastoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME
- Identifiers:
- MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885
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Vibrio sp. SW003.06 16S ribosomal RNA gene, partial sequence
Vibrio sp. SW003.06 16S ribosomal RNA gene, partial sequencegi|302120344|gb|HM012771.1|Nucleotide
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C1865643[trait identifier] AND "Laboratory for Molecular Medicine... (2)
C1865643[trait identifier] AND "Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine"[submitter]SearchClinVar
-
Taxonomy Links for Protein (Select 2462567675) (1)
Taxonomy
-
1144235[uid] (1)
Taxonomy
-
leucine zipper protein 4 isoform 2 [Homo sapiens]
leucine zipper protein 4 isoform 2 [Homo sapiens]gi|974005394|ref|NP_001305769.1|Protein
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Last Updated: Oct 14, 2023