chr13:48307361:AG> Detail (hg38) (RB1)

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

Genome

Assembly	Position
hg19	chr13:48,881,497-48,881,498
hg38	chr13:48,307,361-48,307,362

HGVS

RB1

Type	Transcript	Protein
RefSeq	NM_000321.2:c.219_220delAG	NP_000312.2:p.Arg73SerfsTer36
Ensemble	ENST00000267163.6:c.219_220delAG	ENST00000267163.6:p.Arg73SerfsTer36
	ENST00000646097.1:c.219_220delAG	ENST00000646097.1:p.Arg73SerfsTer44
	ENST00000650461.1:c.219_220delAG	ENST00000650461.1:p.Arg73SerfsTer36
	ENST00000713856.1:c.219_220delAG	ENST00000713856.1:p.Arg73SerfsTer36
	ENST00000713857.1:c.219_220delAG	ENST00000713857.1:p.Arg73SerfsTer36
	ENST00000713858.1:c.219_220delAG	ENST00000713858.1:p.Arg73SerfsTer36

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

RB1

Type	Database	ID	Link
Gene	MIM	614041	OMIM
	HGNC	9884	HGNC
	Ensembl	ENSG00000139687	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1942249	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.500	retinoblastoma	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: rs587778862 dbSNP
Genome: hg38
Position: chr13:48,307,361-48,307,362
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

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