chr19:39013851:C>G Detail (hg19) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:39,013,851-39,013,851
hg38 chr19:38,523,211-38,523,211 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.10348-6C>G
NM_000540.2:c.10348-6C>G
Ensemble ENST00000355481.8:c.10348-6C>G
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
Pathogenic 2022-11-09 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-11 criteria provided, multiple submitters, no conflicts RYR1-related disorder germline unknown Detail
Likely pathogenic 2016-03-31 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2020-01-29 criteria provided, single submitter King Denborough syndrome germline Detail
Pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts Central core myopathy germline paternal Detail
Pathogenic 2021-09-27 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter King Denborough syndrome,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia unknown Detail
Uncertain significance 2023-11-20 criteria provided, single submitter Malignant hyperthermia, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
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.10348-6C>G AND not provided ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND RYR1-related disorder ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND Inborn genetic diseases ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND King Denborough syndrome ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND Central core myopathy ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.10348-6C>G AND Malignant hyperthermia, susceptibility to, 1 ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs193922837 dbSNP
Genome
hg19
Position
chr19:39,013,851-39,013,851
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8646
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)
121204
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4751658361110194E-5
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