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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- See Evidence submitted by expert panel for details.
Variant: NM_000527.5(LDLR):c.3G>T (p.Met1Ile)
CA10584721
250969 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: d6e0032f-77ff-4e94-ad24-e9f089ef4990
HGVS expressions
NM_000527.5:c.3G>T
NM_000527.5(LDLR):c.3G>T (p.Met1Ile)
NC_000019.10:g.11089551G>T
CM000681.2:g.11089551G>T
NC_000019.9:g.11200227G>T
CM000681.1:g.11200227G>T
NC_000019.8:g.11061227G>T
NG_009060.1:g.5171G>T
ENST00000558518.6:c.3G>T
ENST00000455727.6:c.3G>T
ENST00000535915.5:c.3G>T
ENST00000545707.5:c.3G>T
ENST00000557933.5:c.3G>T
ENST00000557958.1:n.89G>T
ENST00000558013.5:c.3G>T
ENST00000558518.5:c.3G>T
ENST00000560502.5:n.89G>T
NM_000527.4:c.3G>T
NM_001195798.1:c.3G>T
NM_001195799.1:c.3G>T
NM_001195800.1:c.3G>T
NM_001195803.1:c.3G>T
NM_001195798.2:c.3G>T
NM_001195799.2:c.3G>T
NM_001195800.2:c.3G>T
NM_001195803.2:c.3G>T
NR_163945.1:n.109C>A
Evidence submitted by expert panel
Approved on: 2022-01-22
Published on: 2022-04-22
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