chr19:38523111:C>T Detail (hg38) (RYR1)

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

Genome

Assembly	Position
hg19	chr19:39,013,751-39,013,751 View the variant detail on this assembly version.
hg38	chr19:38,523,111-38,523,111

HGVS

RYR1

Type	Transcript	Protein
RefSeq	NM_001042723.1:c.10343C>T	NP_001036188.1:p.Ser3448Phe
	NM_000540.2:c.10343C>T	NP_000531.2:p.Ser3448Phe
Ensemble	ENST00000355481.8:c.10343C>T	ENST00000355481.8:p.Ser3448Phe
	ENST00000359596.8:c.10343C>T	ENST00000359596.8:p.Ser3448Phe
	ENST00000689936.2:c.10343C>T	ENST00000689936.2:p.Ser3448Phe
	ENST00000713952.1:c.10010C>T	ENST00000713952.1:p.Ser3337Phe
	ENST00000713953.1:c.10223C>T	ENST00000713953.1:p.Ser3408Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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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
not provided		no assertion provided	not provided	unknown	Detail
Uncertain significance	2023-12-13	criteria provided, single submitter	Malignant hyperthermia, susceptibility to, 1	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.10343C>T (p.Ser3448Phe) AND Congenital multicore myopathy with external ophthalm...	ClinVar	Detail
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe) AND not provided	ClinVar	Detail
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe) AND Malignant hyperthermia, susceptibility to, 1	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: rs193922836 dbSNP
Genome: hg38
Position: chr19:38,523,111-38,523,111
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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