chr19:38995980:TA> Detail (hg19) (RYR1, LOC126862902)

Information

Genome

Assembly Position
hg19 chr19:38,995,980-38,995,981
hg38 chr19:38,505,340-38,505,341 

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.8342_8343delTA NP_001036188.1:p.Ile2781ArgfsTer49
NM_000540.2:c.8342_8343delTA NP_000531.2:p.Ile2781ArgfsTer49
Ensemble ENST00000355481.8:c.8342_8343delTA ENST00000355481.8:p.Ile2781ArgfsTer49
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 2022-04-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts RYR1-related disorder germline Detail
Pathogenic 2021-09-23 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-23 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-23 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-23 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-23 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,King Denborough syndrome,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2023-01-25 criteria provided, multiple submitters, no conflicts Congenital multicore myopathy with external ophthalmoplegia germline Detail
Pathogenic 2010-11-01 no assertion criteria provided Congenital multicore myopathy with external ophthalmoplegia germline Detail
Uncertain significance 2023-03-30 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND not provided ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND RYR1-related disorder ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND Congenital multicore myopathy with external ophth... ClinVar Detail
NM_000540.3(RYR1):c.[11941C>T;8342_8343del] AND Congenital multicore myopathy with external ophthalm... ClinVar Detail
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) AND Malignant hyperthermia, susceptibility to, 1 ClinVar 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
rs758580075 dbSNP
Genome
hg19
Position
chr19:38,995,980-38,995,981
Variant Type
snv
Reference Allele
TA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8450
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)
111148
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)
1.799402598337352E-5
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