NM_001003800.2(BICD2):c.2081G>A (p.Arg694His) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001780684.4
Allele description [Variation Report for NM_001003800.2(BICD2):c.2081G>A (p.Arg694His)]
NM_001003800.2(BICD2):c.2081G>A (p.Arg694His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
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Homologene neighbors for GEO Profiles (Select 105716125) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 132494020) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 132477578) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 105716125) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 105715527) (20)
GEO Profiles
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Last Updated: Mar 16, 2024