chr19:39002893:T>C Detail (hg19) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:39,002,893-39,002,893
hg38 chr19:38,512,253-38,512,253 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.9242T>C NP_001036188.1:p.Met3081Thr
NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr
Ensemble ENST00000355481.8:c.9242T>C ENST00000355481.8:p.Met3081Thr
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 Conflicting classifications of pathogenicity
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
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 2022-08-18 criteria provided, conflicting interpretations Malignant hyperthermia, susceptibility to, 1 germline unknown Detail
Likely benign criteria provided, single submitter not specified germline Detail
Likely benign 2018-06-08 criteria provided, single submitter Congenital multicore myopathy with external ophthalmoplegia germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Neuromuscular disease, congenital, with uniform type 1 fiber germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Central core myopathy germline Detail
Uncertain significance 2023-05-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2024-01-29 criteria provided, single submitter RYR1-related disorder 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

DescrptionSourceLinks
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C] AND Congenital multicore myopathy with external ophthal... ClinVar Detail
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) AND Malignant hyperthermia, susceptibility to, 1 ClinVar Detail
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) AND not specified ClinVar Detail
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) AND Congenital multicore myopathy with external ophthalmo... ClinVar Detail
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) AND Neuromuscular disease, congenital, with uniform type ... ClinVar Detail
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) AND Central core myopathy ClinVar Detail
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) AND not provided ClinVar Detail
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) AND RYR1-related disorder 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
rs147012990 dbSNP
Genome
hg19
Position
chr19:39,002,893-39,002,893
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8652
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)
121222
Allele Counts in All Race (ExAC)
80
Heterozygous Counts in All Race (ExAC)
80
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.599462143835278E-4
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