The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
CA10585809
252258 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: c4ca2e41-d963-4724-bc04-e9367a9c883c
Approved on: 2022-08-29
Published on: 2022-12-23
HGVS expressions
NM_000527.5:c.2215C>T
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
NC_000019.10:g.11123248C>T
CM000681.2:g.11123248C>T
NC_000019.9:g.11233924C>T
CM000681.1:g.11233924C>T
NC_000019.8:g.11094924C>T
NG_009060.1:g.38868C>T
ENST00000558518.6:c.2215C>T
ENST00000252444.9:n.2469C>T
ENST00000455727.6:c.1711C>T
ENST00000535915.5:c.2092C>T
ENST00000545707.5:c.1681C>T
ENST00000557933.5:c.2215C>T
ENST00000558013.5:c.2215C>T
ENST00000558518.5:c.2215C>T
NM_000527.4:c.2215C>T
NM_001195798.1:c.2215C>T
NM_001195799.1:c.2092C>T
NM_001195800.1:c.1711C>T
NM_001195803.1:c.1681C>T
NM_001195798.2:c.2215C>T
NM_001195799.2:c.2092C>T
NM_001195800.2:c.1711C>T
NM_001195803.2:c.1681C>T
Evidence submitted by expert panel
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