NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) AND multiple conditions
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002467842.5
Allele description [Variation Report for NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)]
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
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
-
Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA
Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNAgi|42490754|ref|NM_000549.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024