ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
malignant hyperthermia of anesthesia
Revel Score:
ENST00000359596 (MANE Select)
0.790
ENST00000355481
0.790
ENST00000360985
0.790
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38570619C>T , CM000681.2:g.38570619C>T | GRCh38 |
| NC_000019.9:g.39061259C>T , CM000681.1:g.39061259C>T | GRCh37 |
| NC_000019.8:g.43753099C>T | NCBI36 |
| NG_008866.1:g.141920C>T , LRG_766:g.141920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.608C>T | ||
| ENST00000688602.1:c.2005C>T | ||
| ENST00000689936.1:c.2052-1400C>T | ||
| ENST00000359596.8:c.13672C>T MANE Select | ENSP00000352608.2:p.Arg4558Trp | |
| ENST00000355481.8:c.13657C>T | ENSP00000347667.3:p.Arg4553Trp | |
| ENST00000359596.7:c.13672C>T | ENSP00000352608.2:p.Arg4558Trp | |
| ENST00000360985.7:c.13654C>T | ENSP00000354254.4:p.Arg4552Trp | |
| ENST00000593677.1:c.207-1400C>T | ||
| NM_000540.2:c.13672C>T , LRG_766t1:c.13672C>T | NP_000531.2:p.Arg4558Trp | |
| NM_001042723.1:c.13657C>T | NP_001036188.1:p.Arg4553Trp | |
| XM_006723317.1:c.13654C>T | XP_006723380.1:p.Arg4552Trp | |
| XM_006723319.1:c.13639C>T | XP_006723382.1:p.Arg4547Trp | |
| XM_011527204.1:c.13669C>T | XP_011525506.1:p.Arg4557Trp | |
| XM_011527205.1:c.13660-1400C>T | XP_011525507.1:n.13660-1400C>T | |
| XM_006723317.2:c.13654C>T | XP_006723380.1:p.Arg4552Trp | |
| XM_006723319.2:c.13639C>T | XP_006723382.1:p.Arg4547Trp | |
| XM_011527205.2:c.13660-1400C>T | XP_011525507.1:n.13660-1400C>T | |
| NM_000540.3:c.13672C>T MANE Select | NP_000531.2:p.Arg4558Trp | |
| NM_001042723.2:c.13657C>T | NP_001036188.1:p.Arg4553Trp |