The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- 'cspec' property is found but contains no ID!
- See Evidence submitted by expert panel for details.
Variant: NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)
CA10585116
251436 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: c8ddc916-8f19-4334-ad28-b49e531f6f19
Approved on: 2022-08-28
Published on: 2022-08-28
HGVS expressions
NM_000527.5:c.760C>T
NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)
NC_000019.10:g.11106630C>T
CM000681.2:g.11106630C>T
NC_000019.9:g.11217306C>T
CM000681.1:g.11217306C>T
NC_000019.8:g.11078306C>T
NG_009060.1:g.22250C>T
ENST00000558518.6:c.760C>T
ENST00000252444.9:n.1014C>T
ENST00000455727.6:c.314-762C>T
ENST00000535915.5:c.637C>T
ENST00000545707.5:c.379C>T
ENST00000557933.5:c.760C>T
ENST00000558013.5:c.760C>T
ENST00000558518.5:c.760C>T
ENST00000558528.1:n.275C>T
ENST00000560467.1:n.360C>T
NM_000527.4:c.760C>T
NM_001195798.1:c.760C>T
NM_001195799.1:c.637C>T
NM_001195800.1:c.314-762C>T
NM_001195803.1:c.379C>T
NM_001195798.2:c.760C>T
NM_001195799.2:c.637C>T
NM_001195800.2:c.314-762C>T
NM_001195803.2:c.379C>T
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.