chr19:38443612:C>T Detail (hg38) (RYR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:38,934,252-38,934,252 View the variant detail on this assembly version. |
| hg38 | chr19:38,443,612-38,443,612 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001042723.1:c.325C>T | NP_001036188.1:p.Arg109Trp |
| NM_000540.2:c.325C>T | NP_000531.2:p.Arg109Trp | |
| Ensemble | ENST00000355481.8:c.325C>T | ENST00000355481.8:p.Arg109Trp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2005-12-27 | no assertion criteria provided | Congenital multicore myopathy with external ophthalmoplegia |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2023-12-15 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-12-31 | criteria provided, multiple submitters, no conflicts | RYR1-related disorder |
germline
|
Detail |
|
Likely pathogenic
|
2019-11-19 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-11-22 | criteria provided, single submitter | King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-11-22 | criteria provided, single submitter | King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-11-22 | criteria provided, single submitter | King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-11-22 | criteria provided, single submitter | King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
|
2021-11-22 | criteria provided, single submitter | King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion |
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-03-29 | criteria provided, multiple submitters, no conflicts | Central core myopathy |
germline
|
Detail |
Uncertain significance
|
2024-01-11 | criteria provided, single submitter | Malignant hyperthermia, susceptibility to, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND Congenital multicore myopathy with external ophthalmopl... | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND not provided | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND RYR1-related disorder | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND Congenital myopathy with fiber type disproportion | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND multiple conditions | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND multiple conditions | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND multiple conditions | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND multiple conditions | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND multiple conditions | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND Central core myopathy | ClinVar | Detail |
| NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) AND Malignant hyperthermia, susceptibility to, 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs118192173 dbSNP
- Genome
- hg38
- Position
- chr19:38,443,612-38,443,612
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs118192173
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120804
- Allele Counts in All Race (ExAC)
- 13
- Heterozygous Counts in All Race (ExAC)
- 13
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.0761233071752591E-4
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