chr19:39063944:C>T Detail (hg19) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:39,063,944-39,063,944
hg38 chr19:38,573,304-38,573,304 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.14111C>T NP_001036188.1:p.Thr4704Met
NM_000540.2:c.14126C>T NP_000531.2:p.Thr4709Met
Ensemble ENST00000355481.8:c.14111C>T ENST00000355481.8:p.Thr4704Met
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
COSMIC COSM6050457 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-05-11 no assertion criteria provided Central core myopathy not provided Detail
Pathogenic 2022-12-16 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2013-12-23 criteria provided, single submitter Congenital multicore myopathy with external ophthalmoplegia paternal Detail
Pathogenic Likely pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts RYR1-related disorder germline Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion,Central core myopathy unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion,Central core myopathy unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion,Central core myopathy unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Congenital myopathy with fiber type disproportion,Central core myopathy unknown Detail
Uncertain significance 2023-04-06 reviewed by expert panel Malignant hyperthermia, susceptibility to, 1 germline Detail
Likely pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Likely pathogenic criteria provided, single submitter Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy inherited Detail
Likely pathogenic criteria provided, single submitter Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy inherited Detail
Pathogenic 2021-03-30 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia,Central core myopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.605 Central Core Myopathy (disorder) NA CLINVAR Detail
0.560 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND Central core myopathy ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND not provided ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND Congenital multicore myopathy with external ophthalm... ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND RYR1-related disorder ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND Malignant hyperthermia, susceptibility to, 1 ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND Abnormality of the musculature ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions ClinVar Detail
NA DisGeNET 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
rs118192140 dbSNP
Genome
hg19
Position
chr19:39,063,944-39,063,944
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8358
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)
117320
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.7047391749062393E-5
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