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_001042723.2(RYR1):c.13979_13980delinsCT (p.Leu4660Pro)
CA024095
133055 (ClinVar)
Gene: RYR1
Condition: malignant hyperthermia of anesthesia
Inheritance Mode: Autosomal dominant inheritance
UUID: c2e16786-d7f2-4419-b8fd-4e51876ae437
Approved on: 2023-04-06
Published on: 2023-04-06
HGVS expressions
NM_001042723.2:c.13979_13980delinsCT
NM_001042723.2(RYR1):c.13979_13980delinsCT (p.Leu4660Pro)
NC_000019.10:g.38572266_38572267delinsCT
CM000681.2:g.38572266_38572267delinsCT
NC_000019.9:g.39062906_39062907delinsCT
CM000681.1:g.39062906_39062907delinsCT
NC_000019.8:g.43754746_43754747delinsCT
NG_008866.1:g.143567_143568delinsCT
ENST00000593677.2:n.930_931delinsCT
ENST00000688602.1:n.2327_2328delinsCT
ENST00000689936.1:n.2299_2300delinsCT
ENST00000359596.8:c.13994_13995delinsCT
ENST00000355481.8:c.13979_13980delinsCT
ENST00000359596.7:n.13994_13995delinsCT
ENST00000360985.7:c.13976_13977delinsCT
NM_000540.2:c.13994_13995delinsCT
NM_001042723.1:c.13979_13980delinsCT
NM_000540.3:c.13994_13995delinsCT
NM_000540.3(RYR1):c.13994_13995delinsCT (p.Leu4665Pro)
Evidence submitted by expert panel
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