Annotation Detail
Information
- Associated Genes
- LDLR
- Associated Variants
-
LDLR c.*666T>C
(
ENST00000252444.10,
ENST00000558518.6,
ENST00000560467.2 )
LDLR c.*666T>C ( ENST00000252444.10, ENST00000558518.6, ENST00000560467.2 ) - Associated Disease
- Hypercholesterolemia, familial, 1
- Source Database
- ClinVar
- Description
- NM_000527.5(LDLR):c.*666T>C AND Hypercholesterolemia, familial, 1
- ClinVar Allele ID
- 348008
- ClinVar RefSeq Alternation Syntax
- NM_000527.5:c.*666T>C
- ClinVar RefSeq Alternation Syntax
- NM_001195803.2:c.*666T>C
- ClinVar RefSeq Alternation Syntax
- NM_001195799.2:c.*666T>C
- ClinVar RefSeq Alternation Syntax
- NM_001195798.2:c.*666T>C
- ClinVar RefSeq Alternation Syntax
- NM_001195800.2:c.*666T>C
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000346475
- ClinVar Disease
- Hypercholesterolemia, familial, 1
- Observed Origin Sample
- germline
Drugs