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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- See Evidence submitted by expert panel for details.
Variant: NM_000540.2(RYR1):c.1021G>C (p.Gly341Arg)
CA023828
132992 (ClinVar)
Gene: RYR1
Condition: malignant hyperthermia, susceptibility to, 1
Inheritance Mode: Autosomal dominant inheritance
UUID: abeb9b28-e15a-48a6-8e72-e677bdac5968
Approved on: 2022-03-14
Published on: 2022-03-14
HGVS expressions
NM_000540.2:c.1021G>C
NM_000540.2(RYR1):c.1021G>C (p.Gly341Arg)
NC_000019.10:g.38448712G>C
CM000681.2:g.38448712G>C
NC_000019.9:g.38939352G>C
CM000681.1:g.38939352G>C
NC_000019.8:g.43631192G>C
NG_008866.1:g.20013G>C
ENST00000359596.8:c.1021G>C
ENST00000355481.8:c.1021G>C
ENST00000359596.7:n.1021G>C
ENST00000360985.7:c.1021G>C
NM_001042723.1:c.1021G>C
NM_000540.3:c.1021G>C
NM_001042723.2:c.1021G>C
NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg)
Evidence submitted by expert panel
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