The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC related information was provided by the message!
- No CSPEC computed assertion could be determined for this classification!
- See Evidence submitted by expert panel for details.
Variant: NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA023502
161284 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: 80bb5f03-87c5-45e6-9b97-a70014c29afa
Approved on: 2023-06-23
Published on: 2024-09-25
HGVS expressions
NM_000527.5:c.1444G>A
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
NC_000019.10:g.11113620G>A
CM000681.2:g.11113620G>A
NC_000019.9:g.11224296G>A
CM000681.1:g.11224296G>A
NC_000019.8:g.11085296G>A
NG_009060.1:g.29240G>A
ENST00000252444.10:c.1702G>A
ENST00000559340.2:c.1444G>A
ENST00000560467.2:c.1324G>A
ENST00000558518.6:c.1444G>A
ENST00000252444.9:c.1698G>A
ENST00000455727.6:c.940G>A
ENST00000535915.5:c.1321G>A
ENST00000545707.5:c.1063G>A
ENST00000557933.5:c.1444G>A
ENST00000558013.5:c.1444G>A
ENST00000558518.5:c.1444G>A
ENST00000559340.1:c.165G>A
ENST00000560467.1:c.924G>A
NM_000527.4:c.1444G>A
NM_001195798.1:c.1444G>A
NM_001195799.1:c.1321G>A
NM_001195800.1:c.940G>A
NM_001195803.1:c.1063G>A
NM_001195798.2:c.1444G>A
NM_001195799.2:c.1321G>A
NM_001195800.2:c.940G>A
NM_001195803.2:c.1063G>A
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Evidence submitted by expert panel
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