The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- There was no gene found in the curated document received from the VCI/VCEP
- Gene listed was thus derived from ClinVar and/or CAR
- No CSPEC related information was provided by the message!
- See Evidence submitted by expert panel for details.
Variant: NM_000527.4(LDLR):c.-140C>A
CA16609801
403628 (ClinVar)
Gene: N/A
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: e33183ee-49b9-41e5-adbb-5ae2f04aa421
Approved on: 2022-08-29
Published on: 2022-12-23
HGVS expressions
NM_000527.4(LDLR):c.-140C>A
NC_000019.10:g.11089409C>A
CM000681.2:g.11089409C>A
NC_000019.9:g.11200085C>A
CM000681.1:g.11200085C>A
NC_000019.8:g.11061085C>A
NG_009060.1:g.5029C>A
ENST00000558518.5:c.-140C>A
NM_000527.4:c.-140C>A
NM_001195798.1:c.-140C>A
NM_001195799.1:c.-140C>A
NM_001195800.1:c.-140C>A
NM_001195803.1:c.-140C>A
NR_163945.1:n.251G>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.