chr19:38489355:AG> Detail (hg38) (RYR1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr19:38,979,995-38,979,996
hg38	chr19:38,489,355-38,489,356

HGVS

RYR1

Type	Transcript	Protein
RefSeq	NM_001042723.1:c.5726_5727delAG	NP_001036188.1:p.Glu1909GlyfsTer39
	NM_000540.2:c.5726_5727delAG	NP_000531.2:p.Glu1909GlyfsTer39
Ensemble	ENST00000355481.8:c.5726_5727delAG	ENST00000355481.8:p.Glu1909GlyfsTer39
	ENST00000359596.8:c.5726_5727delAG	ENST00000359596.8:p.Glu1909GlyfsTer39
	ENST00000689936.2:c.5726_5727delAG	ENST00000689936.2:p.Glu1909GlyfsTer39
	ENST00000713952.1:c.5726_5727delAG	ENST00000713952.1:p.Glu1909GlyfsTer39
	ENST00000713953.1:c.5606_5607delAG	ENST00000713953.1:p.Glu1869GlyfsTer39

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

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
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: rs387906681 dbSNP
Genome: hg38
Position: chr19:38,489,355-38,489,356
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

Genome browser