NM_001378120.1(MBD5):c.113+5G>A AND Intellectual disability, autosomal dominant 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003495808.2
Allele description [Variation Report for NM_001378120.1(MBD5):c.113+5G>A]
NM_001378120.1(MBD5):c.113+5G>A
Condition(s)
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cytochrome c oxidase subunit III (mitochondrion) [Orcaella heinsohni]
cytochrome c oxidase subunit III (mitochondrion) [Orcaella heinsohni]gi|2749526652|gb|XCB08827.1|Protein
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Homologene neighbors for GEO Profiles (Select 85222585) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 123135601) (199)
GEO Profiles
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NR1H4 nuclear receptor subfamily 1 group H member 4 [Homo sapiens]
NR1H4 nuclear receptor subfamily 1 group H member 4 [Homo sapiens]Gene ID:9971Gene
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Gene Links for GEO Profiles (Select 123136253) (1)
Gene
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Last Updated: Sep 29, 2024