NM_000540.3(RYR1):c.7021G>A (p.Val2341Ile) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004004997.2
Allele description [Variation Report for NM_000540.3(RYR1):c.7021G>A (p.Val2341Ile)]
NM_000540.3(RYR1):c.7021G>A (p.Val2341Ile)
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
-
ARFGAP1 ADP ribosylation factor GTPase activating protein 1 [Homo sapiens]
ARFGAP1 ADP ribosylation factor GTPase activating protein 1 [Homo sapiens]Gene ID:55738Gene
-
Thymus numidicus (0)
Nucleotide
-
Uncultured bacterium clone OTU_8530 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone OTU_8530 16S ribosomal RNA gene, partial sequencegi|1496546168|gb|MH532178.1|Nucleotide
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Uncultured bacterium clone OTU_8574 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone OTU_8574 16S ribosomal RNA gene, partial sequencegi|1496546212|gb|MH532222.1|Nucleotide
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Uncultured bacterium clone OTU_8510 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone OTU_8510 16S ribosomal RNA gene, partial sequencegi|1496546148|gb|MH532158.1|Nucleotide
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Last Updated: May 19, 2024