chr13:48459700:C>T Detail (hg38) (RB1)

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

Information

Genome

Assembly	Position
hg19	chr13:49,033,836-49,033,836 View the variant detail on this assembly version.
hg38	chr13:48,459,700-48,459,700

HGVS

RB1

Type	Transcript	Protein
RefSeq	NM_000321.2:c.1973C>T	NP_000312.2:p.Ala658Val
Ensemble	ENST00000267163.6:c.1973C>T	ENST00000267163.6:p.Ala658Val
	ENST00000650461.1:c.1973C>T	ENST00000650461.1:p.Ala658Val
	ENST00000713856.1:c.1973C>T	ENST00000713856.1:p.Ala658Val
	ENST00000713857.1:c.1973C>T	ENST00000713857.1:p.Ala658Val
	ENST00000713858.1:c.1973C>T	ENST00000713858.1:p.Ala658Val

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	Uncertain significance
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	COSM6914920	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-08-09	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.1973C>T (p.Ala658Val) 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: -
Genome: hg38
Position: chr13:48,459,700-48,459,700
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8612
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): 118692
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.42516766083645E-6

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