NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002541965.2
Allele description [Variation Report for NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)]
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
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
-
Ossicular Replacement
Ossicular ReplacementSurgical insertion of an implant to replace one or more of the ear ossicles.<br/>Year introduced: 1998MeSH
-
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
-
Chromosome neighbors for GEO Profiles (Select 13069615) (19)
GEO Profiles
-
Protein Links for Gene (Select 501923) (7)
Protein
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Last Updated: Sep 29, 2024