c.(1586+1_1587-1)_(1845+1_1846-1)del AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 25, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000238359.1
Allele description [Variation Report for c.(1586+1_1587-1)_(1845+1_1846-1)del]
c.(1586+1_1587-1)_(1845+1_1846-1)del
Condition(s)
- Name:
- Hypercholesterolemia, familial, 1
- Synonyms:
- LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890
-
SRA Links for BioSample (Select 4000989) (1)
SRA
-
Taxonomy Links for Nucleotide (Select 2472374879) (1)
Taxonomy
-
LOC126581830 [Anopheles aquasalis]
LOC126581830 [Anopheles aquasalis]Gene ID:126581830Gene
-
NCTC_3000
NCTC_3000NCTC_3000BioProject
-
BioProject Links for Nucleotide (Select 1539951760) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023