chr19:38580382:G>A Detail (hg38) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:39,071,022-39,071,022 View the variant detail on this assembly version.
hg38 chr19:38,580,382-38,580,382

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.14509G>A NP_001036188.1:p.Val4837Met
NM_000540.2:c.14524G>A NP_000531.2:p.Val4842Met
Ensemble ENST00000355481.8:c.14509G>A ENST00000355481.8:p.Val4837Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 180901 OMIM
HGNC 10483 HGNC
Ensembl ENSG00000196218 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62021667 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-11-01 no assertion criteria provided Congenital multicore myopathy with external ophthalmoplegia germline Detail
Conflicting interpretations of pathogenicity 2023-02-21 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2014-06-01 no assertion criteria provided Congenital myopathy with cores germline Detail
Uncertain significance 2024-02-02 criteria provided, multiple submitters, no conflicts RYR1-related disorder germline unknown Detail
Likely pathogenic 2022-11-03 criteria provided, single submitter neuromuscular disease germline Detail
Uncertain significance 2023-12-13 criteria provided, multiple submitters, no conflicts Malignant hyperthermia, susceptibility to, 1 germline Detail
Uncertain significance 2023-04-06 reviewed by expert panel Malignant hyperthermia of anesthesia germline Detail
Uncertain significance 2022-05-04 criteria provided, single submitter not specified germline Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy unknown 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

DescrptionSourceLinks
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A] AND Congenital multicore myopathy with external ophthalmop... ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND not provided ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND Congenital myopathy with cores ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND RYR1-related disorder ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND Neuromuscular disease ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND Malignant hyperthermia, susceptibility to, 1 ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND Malignant hyperthermia of anesthesia ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND not specified ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) AND multiple conditions 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
rs193922837 dbSNP
Genome
hg38
Position
chr19:38,580,382-38,580,382
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8636
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)
120564
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.976609933313427E-5
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