NM_000384.3(APOB):c.7470C>G (p.Thr2490=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003804871.1
Allele description [Variation Report for NM_000384.3(APOB):c.7470C>G (p.Thr2490=)]
NM_000384.3(APOB):c.7470C>G (p.Thr2490=)
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
-
Salmonella enterica subsp. enterica serovar Meleagridis strain NY-FSL-R6-0801, w...
Salmonella enterica subsp. enterica serovar Meleagridis strain NY-FSL-R6-0801, whole genome shotgun sequencing projectgi|1821738044|gb|AAPYRZ000000000.1| Z010000000Nucleotide
-
Conserved Domain Links for Structure (Select 125106) (1)
Conserved Domains
-
RBMS3 RNA binding motif single stranded interacting protein 3 [Homo sapiens]
RBMS3 RNA binding motif single stranded interacting protein 3 [Homo sapiens]Gene ID:27303Gene
-
Gene Links for Protein (Select 74762382) (1)
Gene
-
Anopheles funestus isolate W19 cytochrome c oxidase subunit 2 (cox2) gene, compl...
Anopheles funestus isolate W19 cytochrome c oxidase subunit 2 (cox2) gene, complete cds; mitochondrialgi|2444509883|gb|ON931378.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 6, 2024