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.1920C>T (p.Asn640=)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA037448
237869 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: 02241ae1-0fc0-41f4-ba1c-60a421eac6b6
Approved on: 2023-01-27
Published on: 2023-04-01
HGVS expressions
NM_000527.5:c.1920C>T
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
NC_000019.10:g.11120166C>T
CM000681.2:g.11120166C>T
NC_000019.9:g.11230842C>T
CM000681.1:g.11230842C>T
NC_000019.8:g.11091842C>T
NG_009060.1:g.35786C>T
ENST00000558518.6:c.1920C>T
ENST00000252444.9:n.2174C>T
ENST00000455727.6:c.1416C>T
ENST00000535915.5:c.1797C>T
ENST00000545707.5:c.1539C>T
ENST00000557933.5:c.1920C>T
ENST00000558013.5:c.1920C>T
ENST00000558518.5:c.1920C>T
ENST00000559340.1:n.501C>T
NM_000527.4:c.1920C>T
NM_001195798.1:c.1920C>T
NM_001195799.1:c.1797C>T
NM_001195800.1:c.1416C>T
NM_001195803.1:c.1539C>T
NM_001195798.2:c.1920C>T
NM_001195799.2:c.1797C>T
NM_001195800.2:c.1416C>T
NM_001195803.2:c.1539C>T
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Evidence submitted by expert panel
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