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_000540.2(RYR1):c.10097G>A (p.Arg3366His)
CA023812
132990 (ClinVar)
Gene: RYR1
Condition: malignant hyperthermia, susceptibility to, 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 9fc90212-f5da-4a79-b8a1-355b92454a8f
Approved on: 2022-03-14
Published on: 2022-03-14
HGVS expressions
NM_000540.2:c.10097G>A
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His)
NC_000019.10:g.38519292G>A
CM000681.2:g.38519292G>A
NC_000019.9:g.39009932G>A
CM000681.1:g.39009932G>A
NC_000019.8:g.43701772G>A
NG_008866.1:g.90593G>A
ENST00000359596.8:c.10097G>A
ENST00000355481.8:c.10097G>A
ENST00000359596.7:n.10097G>A
ENST00000360985.7:c.10094G>A
ENST00000594335.5:n.3499G>A
ENST00000599547.5:n.904G>A
NM_001042723.1:c.10097G>A
NM_000540.3:c.10097G>A
NM_001042723.2:c.10097G>A
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
Evidence submitted by expert panel
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