chr19:39016095:C>T Detail (hg19) (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	chr19:39,016,095-39,016,095
hg38	chr19:38,525,455-38,525,455 View the variant detail on this assembly version.

HGVS

RYR1

Type	Transcript	Protein
RefSeq	NM_001042723.1:c.10564C>T	NP_001036188.1:p.Pro3522Ser
	NM_000540.2:c.10579C>T	NP_000531.2:p.Pro3527Ser
Ensemble	ENST00000355481.8:c.10564C>T	ENST00000355481.8:p.Pro3522Ser
	ENST00000359596.8:c.10579C>T	ENST00000359596.8:p.Pro3527Ser
	ENST00000689936.2:c.10579C>T	ENST00000689936.2:p.Pro3527Ser
	ENST00000713952.1:c.10246C>T	ENST00000713952.1:p.Pro3416Ser
	ENST00000713953.1:c.10444C>T	ENST00000713953.1:p.Pro3482Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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	COSM5056609	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2002-06-01	no assertion criteria provided	Central core disease, autosomal recessive	germline	Detail
not provided		no assertion provided	not provided	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.004	Multi-core congenital myopathy	In the present paper, we show, for the first time, data on the functional effect...	BeFree	16372898	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser) AND Central core disease, autosomal recessive	ClinVar	Detail
NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser) AND not provided	ClinVar	Detail
In the present paper, we show, for the first time, data on the functional effect of two recently ide...	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: rs118192164 dbSNP
Genome: hg19
Position: chr19:39,016,095-39,016,095
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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