NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter) AND Severe intellectual disability-progressive spastic diplegia syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001265460.1
Allele description [Variation Report for NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)]
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)
Condition(s)
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FOLR1 folate receptor alpha [Homo sapiens]
FOLR1 folate receptor alpha [Homo sapiens]Gene ID:2348Gene
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Gene Links for GEO Profiles (Select 88148934) (1)
Gene
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Gene Links for GEO Profiles (Select 88149303) (7)
Gene
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Homo sapiens chromosome 20, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 20, GRCh38.p14 Primary Assemblygi|568815578|gnl|ASM:GCF_000001305| f|NC_000020.11||gpp|GPC_000001312.1||gnl|NCBI_GENOMES|20Nucleotide
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Chromosome neighbors for GEO Profiles (Select 88148935) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023