NM_000384.3(APOB):c.6019G>A (p.Val2007Met) AND multiple conditions
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002491563.7
Allele description [Variation Report for NM_000384.3(APOB):c.6019G>A (p.Val2007Met)]
NM_000384.3(APOB):c.6019G>A (p.Val2007Met)
Condition(s)
- Name:
- Hypercholesterolemia, autosomal dominant, type B (FHCL2)
- Synonyms:
- APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007751; MedGen: C1704417; OMIM: 144010
-
Cerebral Hemorrhage
Cerebral HemorrhageBleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA....<br/>MeSH
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Ossicular Replacement
Ossicular ReplacementSurgical insertion of an implant to replace one or more of the ear ossicles.<br/>Year introduced: 1998MeSH
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Auditory Brain Stem Implantation
Auditory Brain Stem ImplantationSurgical insertion of an electronic hearing device (AUDITORY BRAIN STEM IMPLANTS) with electrodes to the cochlea nucleus in the BRAIN STEM rather than to the inner ear as in C...<br/>Year introduced: 2003MeSH
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Chromosome neighbors for GEO Profiles (Select 13069615) (19)
GEO Profiles
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Protein Links for Gene (Select 501923) (7)
Protein
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Last Updated: Oct 26, 2024