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.14407_14408inv (p.Phe4803Asn)
CA658658815
478199 (ClinVar)
Gene: RYR1
Condition: malignant hyperthermia of anesthesia
Inheritance Mode: Autosomal dominant inheritance
UUID: 1cfdb692-c4e9-4ea7-9168-d1f55c86bc5c
Approved on: 2023-04-06
Published on: 2023-04-06
HGVS expressions
NM_001042723.2:c.14407_14408inv
NM_001042723.2(RYR1):c.14407_14408inv (p.Phe4803Asn)
NC_000019.10:g.38580039_38580040delinsAA
CM000681.2:g.38580039_38580040delinsAA
NC_000019.9:g.39070679_39070680delinsAA
CM000681.1:g.39070679_39070680delinsAA
NC_000019.8:g.43762519_43762520delinsAA
NG_008866.1:g.151340_151341delinsAA
ENST00000593677.2:n.1358_1359delinsAA
ENST00000688602.1:n.2755_2756delinsAA
ENST00000689936.1:n.2727_2728delinsAA
ENST00000359596.8:c.14422_14423delinsAA
ENST00000355481.8:c.14407_14408delinsAA
ENST00000359596.7:n.14422_14423delinsAA
ENST00000360985.7:c.14404_14405delinsAA
NM_000540.2:c.14422_14423delinsAA
NM_001042723.1:c.14407_14408delinsAA
NM_000540.3:c.14422_14423delinsAA
NM_001042723.2:c.14407_14408delinsAA
NM_000540.3(RYR1):c.14422_14423inv (p.Phe4808Asn)
Evidence submitted by expert panel
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