NM_000540.3(RYR1):c.2786+1G>A AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004015586.1
Allele description
NM_000540.3(RYR1):c.2786+1G>A
Condition(s)
- Name:
- Malignant hyperthermia, susceptibility to, 1 (MHS1)
- Synonyms:
- Anesthesia related hyperthermia; Malignant hyperpyrexia; Fulminating hyperpyrexia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007783; MedGen: C2930980; Orphanet: 423; OMIM: 145600
-
AP-1 complex subunit sigma-2 isoform X2 [Achroia grisella]
AP-1 complex subunit sigma-2 isoform X2 [Achroia grisella]gi|2569477549|ref|XP_059054581.1|Protein
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MAG: Bacteriophage sp. isolate 4047_11540, complete genome
MAG: Bacteriophage sp. isolate 4047_11540, complete genomegi|2295394300|gb|OP076032.1|Nucleotide
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MAG: hypothetical protein [Bacteriophage sp.]
MAG: hypothetical protein [Bacteriophage sp.]gi|2293562656|gb|UVX33523.1|Protein
-
Protein Links for Nucleotide (Select 673536125) (16)
Protein
-
"geo_loc_name=USA: Minnesota"[attr] (124870)
BioSample
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Last Updated: May 1, 2024