NM_000384.3(APOB):c.7223C>T (p.Ser2408Phe) AND multiple conditions
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001837919.16
Allele description [Variation Report for NM_000384.3(APOB):c.7223C>T (p.Ser2408Phe)]
NM_000384.3(APOB):c.7223C>T (p.Ser2408Phe)
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
-
RecName: Full=Importin-8; Short=Imp8; AltName: Full=Ran-binding protein 8; Short...
RecName: Full=Importin-8; Short=Imp8; AltName: Full=Ran-binding protein 8; Short=RanBP8gi|341941053|sp|Q7TMY7.3|IPO8_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024