chr17:7578472:GGCGGGGGTGTGG> Detail (hg19) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,578,472-7,578,484
hg38	chr17:7,675,154-7,675,166

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.446_458delCCACACCCCCGCC	NP_000537.3:p.Thr150AlafsTer16
	NM_001126112.2:c.446_458delCCACACCCCCGCC	NP_001119584.1:p.Thr150AlafsTer16
	NM_001276760.1:c.446_458delCCACACCCCCGCC	NP_001263689.1:p.Thr150AlafsTer16
	NM_001276761.1:c.446_458delCCACACCCCCGCC	NP_001263690.1:p.Thr150AlafsTer16
	NM_001126113.2:c.446_458delCCACACCCCCGCC	NP_001119585.1:p.Thr150AlafsTer16
	NM_001276695.1:c.446_458delCCACACCCCCGCC	NP_001263624.1:p.Thr150AlafsTer16
	NM_001126116.1:c.50_62delCCACACCCCCGCC	NP_001119588.1:p.Thr18AlafsTer16
	NM_001276698.1:c.50_62delCCACACCCCCGCC	NP_001263627.1:p.Thr18AlafsTer16
	NM_001276696.1:c.329_341delCCACACCCCCGCC	NP_001263625.1:p.Thr111AlafsTer16
	NM_001126118.1:c.329_341delCCACACCCCCGCC	NP_001119590.1:p.Thr111AlafsTer16
	NM_001126117.1:c.-20_-32delCCACACCCCCGCC
	NM_001276699.1:c.-20_-32delCCACACCCCCGCC
	NM_001126115.1:c.-20_-32delCCACACCCCCGCC
	NM_001276697.1:c.-20_-32delCCACACCCCCGCC
Ensemble	ENST00000413465.6:c.446_458delCCACACCCCCGCC	ENST00000413465.6:p.Thr150AlafsTer16
	ENST00000269305.9:c.446_458delCCACACCCCCGCC	ENST00000269305.9:p.Thr150AlafsTer16
	ENST00000359597.8:c.446_458delCCACACCCCCGCC	ENST00000359597.8:p.Thr150AlafsTer16
	ENST00000420246.6:c.446_458delCCACACCCCCGCC	ENST00000420246.6:p.Thr150AlafsTer16
	ENST00000445888.6:c.446_458delCCACACCCCCGCC	ENST00000445888.6:p.Thr150AlafsTer16
	ENST00000455263.6:c.446_458delCCACACCCCCGCC	ENST00000455263.6:p.Thr150AlafsTer16
	ENST00000504290.5:c.50_62delCCACACCCCCGCC	ENST00000504290.5:p.Thr18AlafsTer16
	ENST00000504937.5:c.50_62delCCACACCCCCGCC	ENST00000504937.5:p.Thr18AlafsTer16
	ENST00000510385.5:c.50_62delCCACACCCCCGCC	ENST00000510385.5:p.Thr18AlafsTer16
	ENST00000576024.2:c.446_458delCCACACCCCCGCC	ENST00000576024.2:p.Thr150AlafsTer16
	ENST00000622645.4:c.329_341delCCACACCCCCGCC	ENST00000622645.4:p.Thr111AlafsTer16
	ENST00000714356.1:c.329_341delCCACACCCCCGCC	ENST00000714356.1:p.Thr111AlafsTer16
	ENST00000714357.1:c.446_458delCCACACCCCCGCC	ENST00000714357.1:p.Thr150AlafsTer16
	ENST00000714359.1:c.446_458delCCACACCCCCGCC	ENST00000714359.1:p.Thr150AlafsTer16
	ENST00000604348.6:c.425_437delCCACACCCCCGCC	ENST00000604348.6:p.Thr143AlafsTer16
	ENST00000610292.4:c.329_341delCCACACCCCCGCC	ENST00000610292.4:p.Thr111AlafsTer16
	ENST00000610538.4:c.329_341delCCACACCCCCGCC	ENST00000610538.4:p.Thr111AlafsTer16
	ENST00000610623.4:c.-20_-32delCCACACCCCCGCC
	ENST00000618944.4:c.-20_-32delCCACACCCCCGCC
	ENST00000619186.4:c.-20_-32delCCACACCCCCGCC
	ENST00000619485.4:c.329_341delCCACACCCCCGCC	ENST00000619485.4:p.Thr111AlafsTer16
	ENST00000620739.4:c.329_341delCCACACCCCCGCC	ENST00000620739.4:p.Thr111AlafsTer16
	ENST00000714408.1:c.446_458delCCACACCCCCGCC	ENST00000714408.1:p.Thr150AlafsTer16
	ENST00000714409.1:c.446_458delCCACACCCCCGCC	ENST00000714409.1:p.Thr150AlafsTer16

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM5752222	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-09-20	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.447_459del (p.Thr150fs) 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: rs137852790 dbSNP
Genome: hg19
Position: chr17:7,578,472-7,578,484
Variant Type: snv
Reference Allele: GGCGGGGGTGTGG
Alternative Allele: -

Genome browser

chr17:7578472:GGCGGGGGTGTGG> Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript