chr19:38987106:C>T Detail (hg19) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:38,987,106-38,987,106
hg38 chr19:38,496,466-38,496,466 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.6721C>T NP_001036188.1:p.Arg2241Ter
NM_000540.2:c.6721C>T NP_000531.2:p.Arg2241Ter
Ensemble ENST00000355481.8:c.6721C>T ENST00000355481.8:p.Arg2241Ter
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 COSM4077783 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-04-18 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2014-06-01 no assertion criteria provided Multi-minicore disease and atypical periodic paralysis germline Detail
Pathogenic 2022-10-06 criteria provided, multiple submitters, no conflicts Congenital multicore myopathy with external ophthalmoplegia germline maternal Detail
Conflicting interpretations of pathogenicity 2024-02-05 criteria provided, conflicting interpretations Malignant hyperthermia, susceptibility to, 1 germline unknown Detail
Pathogenic 2019-05-08 criteria provided, single submitter Central core myopathy,neuromuscular disease germline Detail
Pathogenic 2019-05-08 criteria provided, single submitter Central core myopathy,neuromuscular disease germline Detail
Pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts RYR1-related disorder germline Detail
Pathogenic 2019-10-16 criteria provided, single submitter Hydrops fetalis germline Detail
Likely pathogenic 2020-02-28 criteria provided, single submitter Central core myopathy germline Detail
Pathogenic 2021-09-27 criteria provided, single submitter Congenital myopathy with fiber type disproportion,Malignant hyperthermia, susceptibility to, 1,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter Congenital myopathy with fiber type disproportion,Malignant hyperthermia, susceptibility to, 1,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter Congenital myopathy with fiber type disproportion,Malignant hyperthermia, susceptibility to, 1,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter Congenital myopathy with fiber type disproportion,Malignant hyperthermia, susceptibility to, 1,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter Congenital myopathy with fiber type disproportion,Malignant hyperthermia, susceptibility to, 1,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia 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_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND not provided ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND Multi-minicore disease and atypical periodic paralysi... ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND Congenital multicore myopathy with external ophthalmo... ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND Malignant hyperthermia, susceptibility to, 1 ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND RYR1-related disorder ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND Hydrops fetalis ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND Central core myopathy ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) 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
rs200563280 dbSNP
Genome
hg19
Position
chr19:38,987,106-38,987,106
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8604
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)
120468
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6601919181857423E-4
Genome browser