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.530C>T (p.Ser177Leu)
CA023715
3686 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: 50f0c43e-cc4f-40fa-b9f2-0e1dbe5c246a
Approved on: 2022-06-03
Published on: 2022-06-30
HGVS expressions
NM_000527.5:c.530C>T
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NC_000019.10:g.11105436C>T
CM000681.2:g.11105436C>T
NC_000019.9:g.11216112C>T
CM000681.1:g.11216112C>T
NC_000019.8:g.11077112C>T
NG_009060.1:g.21056C>T
ENST00000558518.6:c.530C>T
ENST00000252444.9:n.784C>T
ENST00000455727.6:c.314-1956C>T
ENST00000535915.5:c.407C>T
ENST00000545707.5:c.314-1129C>T
ENST00000557933.5:c.530C>T
ENST00000558013.5:c.530C>T
ENST00000558518.5:c.530C>T
ENST00000560467.1:n.130C>T
NM_000527.4:c.530C>T
NM_001195798.1:c.530C>T
NM_001195799.1:c.407C>T
NM_001195800.1:c.314-1956C>T
NM_001195803.1:c.314-1129C>T
NM_001195798.2:c.530C>T
NM_001195799.2:c.407C>T
NM_001195800.2:c.314-1956C>T
NM_001195803.2:c.314-1129C>T
Evidence submitted by expert panel
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