chr17:7577090:CGCCGGTCTCT>TG 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	chr17:7,577,090-7,577,100
hg38	chr17:7,673,772-7,673,782 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.442_452delinsCA	NP_001119588.1:p.Arg148_Arg151delinsHis
	NM_001276698.1:c.442_452delinsCA	NP_001263627.1:p.Arg148_Arg151delinsHis
	NM_000546.5:c.838_848delinsCA	NP_000537.3:p.Arg280_Arg283delinsHis
	NM_001126112.2:c.838_848delinsCA	NP_001119584.1:p.Arg280_Arg283delinsHis
	NM_001276760.1:c.838_848delinsCA	NP_001263689.1:p.Arg280_Arg283delinsHis
	NM_001276761.1:c.838_848delinsCA	NP_001263690.1:p.Arg280_Arg283delinsHis
	NM_001126118.1:c.721_731delinsCA	NP_001119590.1:p.Arg241_Arg244delinsHis
	NM_001276696.1:c.721_731delinsCA	NP_001263625.1:p.Arg241_Arg244delinsHis
	NM_001126117.1:c.361_371delinsCA	NP_001119589.1:p.Arg121_Arg124delinsHis
	NM_001276699.1:c.361_371delinsCA	NP_001263628.1:p.Arg121_Arg124delinsHis
	NM_001126115.1:c.361_371delinsCA	NP_001119587.1:p.Arg121_Arg124delinsHis
	NM_001276697.1:c.361_371delinsCA	NP_001263626.1:p.Arg121_Arg124delinsHis
	NM_001126113.2:c.838_848delinsCA	NP_001119585.1:p.Arg280_Arg283delinsHis
	NM_001276695.1:c.838_848delinsCA	NP_001263624.1:p.Arg280_Arg283delinsHis
Ensemble	ENST00000610538.4:c.721_731delinsCA	ENST00000610538.4:p.Arg241_Arg244delinsHis
	ENST00000510385.5:c.442_452delinsCA	ENST00000510385.5:p.Arg148_Arg151delinsHis
	ENST00000714357.1:c.838_848delinsCA	ENST00000714357.1:p.Arg280_Arg283delinsHis
	ENST00000269305.9:c.838_848delinsCA	ENST00000269305.9:p.Arg280_Arg283delinsHis
	ENST00000504290.5:c.442_452delinsCA	ENST00000504290.5:p.Arg148_Arg151delinsHis
	ENST00000610292.4:c.721_731delinsCA	ENST00000610292.4:p.Arg241_Arg244delinsHis
	ENST00000714359.1:c.838_848delinsCA	ENST00000714359.1:p.Arg280_Arg283delinsHis
	ENST00000714356.1:c.721_731delinsCA	ENST00000714356.1:p.Arg241_Arg244delinsHis
	ENST00000413465.6:c.782+399_782+409delinsCA
	ENST00000359597.8:c.838_848delinsCA	ENST00000359597.8:p.Arg280_Arg283delinsHis
	ENST00000604348.6:c.817_827delinsCA	ENST00000604348.6:p.Arg273_Arg276delinsHis
	ENST00000714409.1:c.838_848delinsCA	ENST00000714409.1:p.Arg280_Arg283delinsHis
	ENST00000622645.4:c.721_731delinsCA	ENST00000622645.4:p.Arg241_Arg244delinsHis
	ENST00000420246.6:c.838_848delinsCA	ENST00000420246.6:p.Arg280_Arg283delinsHis
	ENST00000610623.4:c.361_371delinsCA	ENST00000610623.4:p.Arg121_Arg124delinsHis
	ENST00000576024.2:c.838_848delinsCA	ENST00000576024.2:p.Arg280_Arg283delinsHis
	ENST00000714408.1:c.838_848delinsCA	ENST00000714408.1:p.Arg280_Arg283delinsHis
	ENST00000619186.4:c.361_371delinsCA	ENST00000619186.4:p.Arg121_Arg124delinsHis
	ENST00000504937.5:c.442_452delinsCA	ENST00000504937.5:p.Arg148_Arg151delinsHis
	ENST00000620739.4:c.721_731delinsCA	ENST00000620739.4:p.Arg241_Arg244delinsHis
	ENST00000619485.4:c.721_731delinsCA	ENST00000619485.4:p.Arg241_Arg244delinsHis
	ENST00000455263.6:c.838_848delinsCA	ENST00000455263.6:p.Arg280_Arg283delinsHis
	ENST00000445888.6:c.838_848delinsCA	ENST00000445888.6:p.Arg280_Arg283delinsHis
	ENST00000618944.4:c.361_371delinsCA	ENST00000618944.4:p.Arg121_Arg124delinsHis

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

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
Likely pathogenic	2013-11-25	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.838_848delinsCA (p.Arg280_Arg283delinsHis) AND Hereditary cancer-predisposing sy...	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: rs587781564 dbSNP
Genome: hg19
Position: chr17:7,577,090-7,577,100
Variant Type: snv
Reference Allele: CGCCGGTCTCT
Alternative Allele: TG

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