chr19:38990601:T>A Detail (hg19) (RYR1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr19:38,990,601-38,990,601
hg38	chr19:38,499,961-38,499,961 View the variant detail on this assembly version.

HGVS

RYR1

Type	Transcript	Protein
RefSeq	NM_001042723.1:c.7268T>A	NP_001036188.1:p.Met2423Lys
	NM_000540.2:c.7268T>A	NP_000531.2:p.Met2423Lys
Ensemble	ENST00000355481.8:c.7268T>A	ENST00000355481.8:p.Met2423Lys
	ENST00000359596.8:c.7268T>A	ENST00000359596.8:p.Met2423Lys
	ENST00000689936.2:c.7268T>A	ENST00000689936.2:p.Met2423Lys
	ENST00000713952.1:c.7268T>A	ENST00000713952.1:p.Met2423Lys
	ENST00000713953.1:c.7148T>A	ENST00000713953.1:p.Met2383Lys

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

RYR1

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	2005-12-27	no assertion criteria provided	Congenital multicore myopathy with external ophthalmoplegia	germline	Detail
Pathogenic	2022-10-12	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2016-03-18	no assertion criteria provided	clubfoot	unknown	Detail
Pathogenic	2016-01-01	criteria provided, single submitter	Congenital myopathy with fiber type disproportion	unknown	Detail
Pathogenic	2024-01-11	criteria provided, multiple submitters, no conflicts	RYR1-related disorder	germline	Detail
Likely pathogenic	2021-10-28	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia	unknown	Detail
Likely pathogenic	2021-10-28	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia	unknown	Detail
Likely pathogenic	2021-10-28	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia	unknown	Detail
Likely pathogenic	2021-10-28	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia	unknown	Detail
Likely pathogenic	2021-10-28	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,King Denborough syndrome,Central core myopathy,Malignant hyperthermia, susceptibility to, 1,Congenital multicore myopathy with external ophthalmoplegia	unknown	Detail
Uncertain significance	2023-12-13	criteria provided, single submitter	Malignant hyperthermia, susceptibility to, 1	germline	Detail
Likely pathogenic	2023-11-21	criteria provided, single submitter	neuromuscular disease	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

Descrption	Source	Links
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND Congenital multicore myopathy with external ophthalmo...	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND not provided	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND Congenital myopathy with fiber type disproportion	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND RYR1-related disorder	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND Malignant hyperthermia, susceptibility to, 1	ClinVar	Detail
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND Neuromuscular disease	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: rs118192174 dbSNP
Genome: hg19
Position: chr19:38,990,601-38,990,601
Variant Type: snv
Reference Allele: T
Alternative Allele: A
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): 121190
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.1257529499133594E-5

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