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.682G>A (p.Glu228Lys)
CA023749
3691 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: e72e629f-1640-40bb-97c4-aed2ca36bbe3
Approved on: 2022-06-21
Published on: 2022-06-21
HGVS expressions
NM_000527.5:c.682G>A
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NC_000019.10:g.11105588G>A
CM000681.2:g.11105588G>A
NC_000019.9:g.11216264G>A
CM000681.1:g.11216264G>A
NC_000019.8:g.11077264G>A
NG_009060.1:g.21208G>A
ENST00000558518.6:c.682G>A
ENST00000252444.9:n.936G>A
ENST00000455727.6:c.314-1804G>A
ENST00000535915.5:c.559G>A
ENST00000545707.5:c.314-977G>A
ENST00000557933.5:c.682G>A
ENST00000558013.5:c.682G>A
ENST00000558518.5:c.682G>A
ENST00000560467.1:n.282G>A
NM_000527.4:c.682G>A
NM_001195798.1:c.682G>A
NM_001195799.1:c.559G>A
NM_001195800.1:c.314-1804G>A
NM_001195803.1:c.314-977G>A
NM_001195798.2:c.682G>A
NM_001195799.2:c.559G>A
NM_001195800.2:c.314-1804G>A
NM_001195803.2:c.314-977G>A
Evidence submitted by expert panel
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