Annotation Detail
Information
- Associated Genes
- LDLR
- Associated Variants
-
LDLR p.Ser138Ter (p.S138*)
(
ENST00000252444.10,
ENST00000455727.6,
ENST00000535915.5,
ENST00000545707.5,
ENST00000557933.5,
ENST00000558013.5,
ENST00000558518.6,
ENST00000560467.2 )
LDLR p.Ser138Ter (p.S138*) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 ) - Associated Disease
- Homozygous familial hypercholesterolemia
- Source Database
- ClinVar
- Description
- NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) AND Homozygous familial hypercholesterolemia
- ClinVar Allele ID
- 245546
- ClinVar RefSeq Alternation Syntax
- NM_001195799.2:c.290C>G
- ClinVar RefSeq Alternation Syntax
- NM_001195800.2:c.314-2073C>G
- ClinVar RefSeq Alternation Syntax
- NM_000527.5:c.413C>G
- ClinVar RefSeq Alternation Syntax
- NM_001195798.2:c.413C>G
- ClinVar RefSeq Alternation Syntax
- NM_001195803.2:c.314-1246C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-04-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004017542
- ClinVar Disease
- Homozygous familial hypercholesterolemia
- Observed Origin Sample
- germline
Drugs