NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (5 submissions)
- Last evaluated:
- Apr 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000711236.34
Allele description
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
genome reconstructed from biosample SAMN04961126
genome reconstructed from biosample SAMN04961126biosample
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Homo sapiens structural maintenance of chromosomes 1B (SMC1B), transcript varian...
Homo sapiens structural maintenance of chromosomes 1B (SMC1B), transcript variant 2, mRNAgi|613410200|ref|NM_001291501.1|Nucleotide
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Taxonomy Links for Nucleotide (Select 2215162861) (1)
Taxonomy
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Neuralized embryoid bodies response to Hedgehog agonist
Neuralized embryoid bodies response to Hedgehog agonistAccession: GDS2707GEO DataSets
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Related DataSets for GEO Profiles (Select 38461300) (1)
GEO DataSets
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Last Updated: Jun 17, 2024