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.1597C>A (p.Arg533Ser)
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA10607101
291315 (ClinVar)
Gene: RYR1
Condition: malignant hyperthermia, susceptibility to, 1
Inheritance Mode: Autosomal dominant inheritance
UUID: ef32acc4-b195-48ee-9f7e-289e729417a0
Approved on: 2023-04-07
Published on: 2023-04-07
HGVS expressions
NM_000540.3:c.1597C>A
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)
NC_000019.10:g.38455471C>A
CM000681.2:g.38455471C>A
NC_000019.9:g.38946111C>A
CM000681.1:g.38946111C>A
NC_000019.8:g.43637951C>A
NG_008866.1:g.26772C>A
ENST00000599547.6:n.1597C>A
ENST00000359596.8:c.1597C>A
ENST00000355481.8:c.1597C>A
ENST00000359596.7:n.1597C>A
ENST00000360985.7:c.1597C>A
NM_000540.2:c.1597C>A
NM_001042723.1:c.1597C>A
NM_001042723.2:c.1597C>A
More
Evidence submitted by expert panel
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