Annotation Detail
Information
- Associated Genes
- LDLR
- Associated Variants
-
LDLR p.Asp266Asn (p.D266N)
(
ENST00000252444.10,
ENST00000455727.6,
ENST00000535915.5,
ENST00000545707.5,
ENST00000557933.5,
ENST00000558013.5,
ENST00000558518.6,
ENST00000560467.2 )
LDLR p.Asp266Asn (p.D266N) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) AND not provided
- ClinVar Allele ID
- 228147
- ClinVar RefSeq Alternation Syntax
- NM_001195800.2:c.314-726G>A
- ClinVar RefSeq Alternation Syntax
- NM_000527.5:c.796G>A
- ClinVar RefSeq Alternation Syntax
- NM_001195798.2:c.796G>A
- ClinVar RefSeq Alternation Syntax
- NM_001195799.2:c.673G>A
- ClinVar RefSeq Alternation Syntax
- NM_001195803.2:c.415G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-09-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002255136
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs