chr17:7577123:ACCTCAAAGC> Detail (hg19) (TP53)

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

Genome

Assembly	Position
hg19	chr17:7,577,123-7,577,132
hg38	chr17:7,673,805-7,673,814

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126113.2:c.806_815delGCTTTGAGGT	NP_001119585.1:p.Phe270ValfsTer70
	NM_001276695.1:c.806_815delGCTTTGAGGT	NP_001263624.1:p.Phe270ValfsTer70
	NM_001276696.1:c.689_698delGCTTTGAGGT	NP_001263625.1:p.Phe231ValfsTer78
	NM_001126118.1:c.689_698delGCTTTGAGGT	NP_001119590.1:p.Phe231ValfsTer72
	NM_000546.5:c.806_815delGCTTTGAGGT	NP_000537.3:p.Phe270ValfsTer72
	NM_001126112.2:c.806_815delGCTTTGAGGT	NP_001119584.1:p.Phe270ValfsTer72
	NM_001276760.1:c.806_815delGCTTTGAGGT	NP_001263689.1:p.Phe270ValfsTer72
	NM_001276761.1:c.806_815delGCTTTGAGGT	NP_001263690.1:p.Phe270ValfsTer72
	NM_001126116.1:c.410_419delGCTTTGAGGT	NP_001119588.1:p.Phe138ValfsTer78
	NM_001276698.1:c.410_419delGCTTTGAGGT	NP_001263627.1:p.Phe138ValfsTer78
	NM_001126115.1:c.329_338delGCTTTGAGGT	NP_001119587.1:p.Phe111ValfsTer72
	NM_001276697.1:c.329_338delGCTTTGAGGT	NP_001263626.1:p.Phe111ValfsTer72
	NM_001126117.1:c.329_338delGCTTTGAGGT	NP_001119589.1:p.Phe111ValfsTer70
	NM_001276699.1:c.329_338delGCTTTGAGGT	NP_001263628.1:p.Phe111ValfsTer70
Ensemble	ENST00000413465.6:c.782+367_782+376delGCTTTGAGGT
	ENST00000714357.1:c.806_815delGCTTTGAGGT	ENST00000714357.1:p.Phe270ValfsTer72
	ENST00000445888.6:c.806_815delGCTTTGAGGT	ENST00000445888.6:p.Phe270ValfsTer72
	ENST00000455263.6:c.806_815delGCTTTGAGGT	ENST00000455263.6:p.Phe270ValfsTer70
	ENST00000620739.4:c.689_698delGCTTTGAGGT	ENST00000620739.4:p.Phe231ValfsTer72
	ENST00000504937.5:c.410_419delGCTTTGAGGT	ENST00000504937.5:p.Phe138ValfsTer72
	ENST00000576024.2:c.806_815delGCTTTGAGGT	ENST00000576024.2:p.Phe270ValfsTer86
	ENST00000420246.6:c.806_815delGCTTTGAGGT	ENST00000420246.6:p.Phe270ValfsTer78
	ENST00000622645.4:c.689_698delGCTTTGAGGT	ENST00000622645.4:p.Phe231ValfsTer78
	ENST00000714409.1:c.806_815delGCTTTGAGGT	ENST00000714409.1:p.Phe270ValfsTer72
	ENST00000604348.6:c.785_794delGCTTTGAGGT	ENST00000604348.6:p.Phe263ValfsTer72
	ENST00000359597.8:c.806_815delGCTTTGAGGT	ENST00000359597.8:p.Phe270ValfsTer79
	ENST00000714356.1:c.689_698delGCTTTGAGGT	ENST00000714356.1:p.Phe231ValfsTer72
	ENST00000714359.1:c.806_815delGCTTTGAGGT	ENST00000714359.1:p.Phe270ValfsTer72
	ENST00000610292.4:c.689_698delGCTTTGAGGT	ENST00000610292.4:p.Phe231ValfsTer72
	ENST00000504290.5:c.410_419delGCTTTGAGGT	ENST00000504290.5:p.Phe138ValfsTer70
	ENST00000269305.9:c.806_815delGCTTTGAGGT	ENST00000269305.9:p.Phe270ValfsTer72
	ENST00000510385.5:c.410_419delGCTTTGAGGT	ENST00000510385.5:p.Phe138ValfsTer78
	ENST00000610538.4:c.689_698delGCTTTGAGGT	ENST00000610538.4:p.Phe231ValfsTer70
	ENST00000618944.4:c.329_338delGCTTTGAGGT	ENST00000618944.4:p.Phe111ValfsTer78
	ENST00000619485.4:c.689_698delGCTTTGAGGT	ENST00000619485.4:p.Phe231ValfsTer72
	ENST00000619186.4:c.329_338delGCTTTGAGGT	ENST00000619186.4:p.Phe111ValfsTer72
	ENST00000714408.1:c.806_815delGCTTTGAGGT	ENST00000714408.1:p.Phe270ValfsTer72
	ENST00000610623.4:c.329_338delGCTTTGAGGT	ENST00000610623.4:p.Phe111ValfsTer70

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	COSM45787	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-12-03	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.808_817del (p.Phe270fs) 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: rs587781987 dbSNP
Genome: hg19
Position: chr17:7,577,123-7,577,132
Variant Type: snv
Reference Allele: ACCTCAAAGC
Alternative Allele: -

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