chr17:7674273:GGTACAGT> Detail (hg38) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,577,591-7,577,598
hg38	chr17:7,674,273-7,674,280

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.683_690delACTGTACC	NP_000537.3:p.Cys229HisfsTer8
	NM_001126112.2:c.683_690delACTGTACC	NP_001119584.1:p.Cys229HisfsTer8
	NM_001276760.1:c.683_690delACTGTACC	NP_001263689.1:p.Cys229HisfsTer8
	NM_001276761.1:c.683_690delACTGTACC	NP_001263690.1:p.Cys229HisfsTer8
	NM_001126113.2:c.683_690delACTGTACC	NP_001119585.1:p.Cys229HisfsTer8
	NM_001276695.1:c.683_690delACTGTACC	NP_001263624.1:p.Cys229HisfsTer8
	NM_001126116.1:c.287_294delACTGTACC	NP_001119588.1:p.Cys97HisfsTer8
	NM_001276698.1:c.287_294delACTGTACC	NP_001263627.1:p.Cys97HisfsTer8
	NM_001126118.1:c.566_573delACTGTACC	NP_001119590.1:p.Cys190HisfsTer8
	NM_001126117.1:c.206_213delACTGTACC	NP_001119589.1:p.Cys70HisfsTer8
	NM_001276699.1:c.206_213delACTGTACC	NP_001263628.1:p.Cys70HisfsTer8
	NM_001126115.1:c.206_213delACTGTACC	NP_001119587.1:p.Cys70HisfsTer8
	NM_001276697.1:c.206_213delACTGTACC	NP_001263626.1:p.Cys70HisfsTer8
	NM_001276696.1:c.566_573delACTGTACC	NP_001263625.1:p.Cys190HisfsTer8
Ensemble	ENST00000269305.9:c.683_690delACTGTACC	ENST00000269305.9:p.Cys229HisfsTer8
	ENST00000359597.8:c.683_690delACTGTACC	ENST00000359597.8:p.Cys229HisfsTer8
	ENST00000413465.6:c.683_690delACTGTACC	ENST00000413465.6:p.Cys229HisfsTer8
	ENST00000420246.6:c.683_690delACTGTACC	ENST00000420246.6:p.Cys229HisfsTer8
	ENST00000445888.6:c.683_690delACTGTACC	ENST00000445888.6:p.Cys229HisfsTer8
	ENST00000455263.6:c.683_690delACTGTACC	ENST00000455263.6:p.Cys229HisfsTer8
	ENST00000504290.5:c.287_294delACTGTACC	ENST00000504290.5:p.Cys97HisfsTer8
	ENST00000504937.5:c.287_294delACTGTACC	ENST00000504937.5:p.Cys97HisfsTer8
	ENST00000510385.5:c.287_294delACTGTACC	ENST00000510385.5:p.Cys97HisfsTer8
	ENST00000576024.2:c.683_690delACTGTACC	ENST00000576024.2:p.Cys229HisfsTer8
	ENST00000604348.6:c.662_669delACTGTACC	ENST00000604348.6:p.Cys222HisfsTer8
	ENST00000610292.4:c.566_573delACTGTACC	ENST00000610292.4:p.Cys190HisfsTer8
	ENST00000610538.4:c.566_573delACTGTACC	ENST00000610538.4:p.Cys190HisfsTer8
	ENST00000610623.4:c.206_213delACTGTACC	ENST00000610623.4:p.Cys70HisfsTer8
	ENST00000618944.4:c.206_213delACTGTACC	ENST00000618944.4:p.Cys70HisfsTer8
	ENST00000619186.4:c.206_213delACTGTACC	ENST00000619186.4:p.Cys70HisfsTer8
	ENST00000619485.4:c.566_573delACTGTACC	ENST00000619485.4:p.Cys190HisfsTer8
	ENST00000620739.4:c.566_573delACTGTACC	ENST00000620739.4:p.Cys190HisfsTer8
	ENST00000622645.4:c.566_573delACTGTACC	ENST00000622645.4:p.Cys190HisfsTer8
	ENST00000714356.1:c.566_573delACTGTACC	ENST00000714356.1:p.Cys190HisfsTer8
	ENST00000714357.1:c.683_690delACTGTACC	ENST00000714357.1:p.Cys229HisfsTer8
	ENST00000714359.1:c.683_690delACTGTACC	ENST00000714359.1:p.Cys229HisfsTer8
	ENST00000714408.1:c.683_690delACTGTACC	ENST00000714408.1:p.Cys229HisfsTer8
	ENST00000714409.1:c.683_690delACTGTACC	ENST00000714409.1:p.Cys229HisfsTer8

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

TP53

Type	Database	ID	Link
Gene	MIM	191170	OMIM
	HGNC	11998	HGNC
	Ensembl	ENSG00000141510	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
Pathogenic	2014-01-13	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.685_692del (p.Cys229fs) 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: rs730882016 dbSNP
Genome: hg38
Position: chr17:7,674,273-7,674,280
Variant Type: snv
Reference Allele: GGTACAGT
Alternative Allele: -

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