NM_000384.3(APOB):c.6201C>T (p.His2067=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 27, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000865989.3
Allele description
NM_000384.3(APOB):c.6201C>T (p.His2067=)
Condition(s)
- Name:
- Familial hypercholesterolemia 2 (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
-
Sequence 47 from patent US 6875570
Sequence 47 from patent US 6875570gi|62789347|gb|AAY08093.1||pat|US|6 0|47Protein
-
hepatitis A virus cellular receptor 1 isoform a precursor [Homo sapiens]
hepatitis A virus cellular receptor 1 isoform a precursor [Homo sapiens]gi|153085427|ref|NP_036338.2|Protein
-
LOC113313363 [Papaver somniferum]
LOC113313363 [Papaver somniferum]Gene ID:113313363Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2022