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.2113G>T (p.Ala705Ser)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA10585777
252224 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: 94ff5c68-d4d0-4282-8457-c124233dec6d
Approved on: 2022-02-25
Published on: 2022-04-25
HGVS expressions
NM_000527.5:c.2113G>T
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
NC_000019.10:g.11120495G>T
CM000681.2:g.11120495G>T
NC_000019.9:g.11231171G>T
CM000681.1:g.11231171G>T
NC_000019.8:g.11092171G>T
NG_009060.1:g.36115G>T
ENST00000558518.6:c.2113G>T
ENST00000252444.9:n.2367G>T
ENST00000455727.6:c.1609G>T
ENST00000535915.5:c.1990G>T
ENST00000545707.5:c.1606+262G>T
ENST00000557933.5:c.2113G>T
ENST00000558013.5:c.2113G>T
ENST00000558518.5:c.2113G>T
NM_000527.4:c.2113G>T
NM_001195798.1:c.2113G>T
NM_001195799.1:c.1990G>T
NM_001195800.1:c.1609G>T
NM_001195803.1:c.1606+262G>T
NM_001195798.2:c.2113G>T
NM_001195799.2:c.1990G>T
NM_001195800.2:c.1609G>T
NM_001195803.2:c.1606+262G>T
More
Evidence submitted by expert panel
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