NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000238393.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala)]
NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala)
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
-
FAM189A1 AND (alive[prop]) (581)
Gene
-
HLA-DPB1 AND (alive[prop]) (137)
Gene
-
Transcriptional factor B3 family protein [Arabidopsis thaliana]
Transcriptional factor B3 family protein [Arabidopsis thaliana]gi|15236028|ref|NP_194891.1|Protein
-
WASHC2A AND (alive[prop]) (182)
Gene
-
PRRC1 proline rich coiled-coil 1 [Homo sapiens]
PRRC1 proline rich coiled-coil 1 [Homo sapiens]Gene ID:133619Gene
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023