Annotation Detail
Information
- Associated Genes
- LDLR
- Associated Variants
-
LDLR c.68-1G>C
(
ENST00000252444.10,
ENST00000455727.6,
ENST00000535915.5,
ENST00000545707.5,
ENST00000557933.5,
ENST00000558013.5,
ENST00000558518.6,
ENST00000560467.2 )
LDLR c.68-1G>C ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 ) - Associated Disease
- Hypercholesterolemia, familial, 1
- Source Database
- ClinVar
- Description
- NM_000527.5(LDLR):c.68-1G>C AND Hypercholesterolemia, familial, 1
- ClinVar Allele ID
- 245360
- ClinVar RefSeq Alternation Syntax
- NM_001406861.1:c.326-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001195799.2:c.68-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001195803.2:c.68-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_000527.5:c.68-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001195800.2:c.68-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001195798.2:c.68-1G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-03-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000238079
- ClinVar Disease
- Hypercholesterolemia, familial, 1
- Observed Origin Sample
- not applicable
- Observed Origin Sample
- germline
Drugs