NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002534034.4
Allele description [Variation Report for NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter)]
NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter)
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
-
3-Amino-4-cyanopyridine (0)
GEO DataSets
-
1938474[uid] (1)
Taxonomy
-
JGI_XZG62305.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7576227 3'...
JGI_XZG62305.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7576227 3', mRNA sequencegi|57247467|gnl|dbEST|27053510|gb|C 47.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024