chr13:48345108:G>T 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	chr13:48,919,244-48,919,244 View the variant detail on this assembly version.
hg38	chr13:48,345,108-48,345,108

HGVS

RB1

Type	Transcript	Protein
RefSeq	NM_000321.2:c.409G>T	NP_000312.2:p.Glu137Ter
Ensemble	ENST00000267163.6:c.409G>T	ENST00000267163.6:p.Glu137Ter
	ENST00000650461.1:c.409G>T	ENST00000650461.1:p.Glu137Ter
	ENST00000713856.1:c.409G>T	ENST00000713856.1:p.Glu137Ter
	ENST00000713857.1:c.409G>T	ENST00000713857.1:p.Glu137Ter
	ENST00000713858.1:c.409G>T	ENST00000713858.1:p.Glu137Ter

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

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	COSM890	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-05-20	criteria provided, multiple submitters, no conflicts	retinoblastoma	germline	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.382	osteosarcoma	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail
0.134	osteosarcoma	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail
0.010	Osteosarcoma of bone	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail
0.500	retinoblastoma	NA	CLINVAR		Detail
0.031	Osteosarcoma of bone	Some of the genetic changes identified were in tumor suppressor genes previously...	BeFree	22006429	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) AND Retinoblastoma	ClinVar	Detail
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) AND Neoplasm	ClinVar	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	DisGeNET	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	DisGeNET	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	DisGeNET	Detail
NA	DisGeNET	Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter...	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: rs121913296 dbSNP
Genome: hg38
Position: chr13:48,345,108-48,345,108
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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