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.1210A>C (p.Thr404Pro)
CA10585359
251735 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: 893fa193-f63f-4fcd-b2be-1768f75bd99b
Approved on: 2023-04-28
Published on: 2023-05-01
HGVS expressions
NM_000527.5:c.1210A>C
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro)
NC_000019.10:g.11113301A>C
CM000681.2:g.11113301A>C
NC_000019.9:g.11223977A>C
CM000681.1:g.11223977A>C
NC_000019.8:g.11084977A>C
NG_009060.1:g.28921A>C
ENST00000558518.6:c.1210A>C
ENST00000252444.9:n.1464A>C
ENST00000455727.6:c.706A>C
ENST00000535915.5:c.1087A>C
ENST00000545707.5:c.829A>C
ENST00000557933.5:c.1210A>C
ENST00000558013.5:c.1210A>C
ENST00000558518.5:c.1210A>C
ENST00000560173.1:n.209A>C
ENST00000560467.1:n.690A>C
NM_000527.4:c.1210A>C
NM_001195798.1:c.1210A>C
NM_001195799.1:c.1087A>C
NM_001195800.1:c.706A>C
NM_001195803.1:c.829A>C
NM_001195798.2:c.1210A>C
NM_001195799.2:c.1087A>C
NM_001195800.2:c.706A>C
NM_001195803.2:c.829A>C
Evidence submitted by expert panel
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