chr13:48919281:C>T Detail (hg19) (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	chr13:48,919,281-48,919,281
hg38	chr13:48,345,145-48,345,145 View the variant detail on this assembly version.

HGVS

RB1

Type	Transcript	Protein
RefSeq	NM_000321.2:c.446C>T	NP_000312.2:p.Ser149Leu
Ensemble	ENST00000650461.1:c.446C>T	ENST00000650461.1:p.Ser149Leu
	ENST00000267163.6:c.446C>T	ENST00000267163.6:p.Ser149Leu
	ENST00000713856.1:c.446C>T	ENST00000713856.1:p.Ser149Leu
	ENST00000713858.1:c.446C>T	ENST00000713858.1:p.Ser149Leu
	ENST00000713857.1:c.446C>T	ENST00000713857.1:p.Ser149Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-10-05	criteria provided, single submitter	retinoblastoma	germline	Detail
Likely benign	2023-03-06	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.500	retinoblastoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000321.3(RB1):c.446C>T (p.Ser149Leu) AND Retinoblastoma	ClinVar	Detail
NM_000321.3(RB1):c.446C>T (p.Ser149Leu) AND Hereditary cancer-predisposing syndrome	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: rs587778870 dbSNP
Genome: hg19
Position: chr13:48,919,281-48,919,281
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120858
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4822518989227025E-5

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