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_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
- Curation Version - 2.0
- Curation History
- JSON LD for Version 2.0
133098 (ClinVar)
Gene: RYR1
Condition: malignant hyperthermia, susceptibility to, 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 8e77a22f-9abe-497a-adde-e81a860e9060
Approved on: 2023-05-20
Published on: 2023-05-20
HGVS expressions
NM_000540.3:c.14918C>T
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
Evidence submitted by expert panel
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