NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) AND Malignant hyperthermia, susceptibility to, 1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001802868.5
Allele description [Variation Report for NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)]
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
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
-
260724[uid] (1)
Taxonomy
-
Mus musculus 6 days neonate head cDNA, RIKEN full-length enriched library, clone...
Mus musculus 6 days neonate head cDNA, RIKEN full-length enriched library, clone:5430425J12 product:hypothetical protein, full insert sequencegi|12856523|dbj|AK017337.1|Nucleotide
-
hypothetical protein [Bifidobacterium longum]
hypothetical protein [Bifidobacterium longum]gi|497767301|ref|WP_010081485.1|Protein
-
CYP17A1 cytochrome P450 family 17 subfamily A member 1 [Homo sapiens]
CYP17A1 cytochrome P450 family 17 subfamily A member 1 [Homo sapiens]Gene ID:1586Gene
-
MFS transporter [Paenibacillus sp. JDR-2]
MFS transporter [Paenibacillus sp. JDR-2]gi|502363838|ref|WP_012772706.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024