chr17:7673716:C> 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	chr17:7,577,034-7,577,034
hg38	chr17:7,673,716-7,673,716

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.904delG	NP_000537.3:p.Ser303AlafsTer42
	NM_001126112.2:c.904delG	NP_001119584.1:p.Ser303AlafsTer42
	NM_001276760.1:c.904delG	NP_001263689.1:p.Ser303AlafsTer42
	NM_001276761.1:c.904delG	NP_001263690.1:p.Ser303AlafsTer42
	NM_001126113.2:c.904delG	NP_001119585.1:p.Ser303AlafsTer40
	NM_001276695.1:c.904delG	NP_001263624.1:p.Ser303AlafsTer40
	NM_001126116.1:c.508delG	NP_001119588.1:p.Ser171AlafsTer48
	NM_001276698.1:c.508delG	NP_001263627.1:p.Ser171AlafsTer48
	NM_001126118.1:c.787delG	NP_001119590.1:p.Ser264AlafsTer42
	NM_001126117.1:c.427delG	NP_001119589.1:p.Ser144AlafsTer40
	NM_001276699.1:c.427delG	NP_001263628.1:p.Ser144AlafsTer40
	NM_001126115.1:c.427delG	NP_001119587.1:p.Ser144AlafsTer42
	NM_001276697.1:c.427delG	NP_001263626.1:p.Ser144AlafsTer42
	NM_001276696.1:c.787delG	NP_001263625.1:p.Ser264AlafsTer48
Ensemble	ENST00000445888.6:c.904delG	ENST00000445888.6:p.Ser303AlafsTer42
	ENST00000269305.9:c.904delG	ENST00000269305.9:p.Ser303AlafsTer42
	ENST00000359597.8:c.904delG	ENST00000359597.8:p.Ser303AlafsTer49
	ENST00000413465.6:c.782+465delG
	ENST00000714357.1:c.904delG	ENST00000714357.1:p.Ser303AlafsTer42
	ENST00000714359.1:c.904delG	ENST00000714359.1:p.Ser303AlafsTer42
	ENST00000714408.1:c.904delG	ENST00000714408.1:p.Ser303AlafsTer42
	ENST00000714409.1:c.904delG	ENST00000714409.1:p.Ser303AlafsTer42
	ENST00000420246.6:c.904delG	ENST00000420246.6:p.Ser303AlafsTer48
	ENST00000455263.6:c.904delG	ENST00000455263.6:p.Ser303AlafsTer40
	ENST00000504290.5:c.508delG	ENST00000504290.5:p.Ser171AlafsTer40
	ENST00000504937.5:c.508delG	ENST00000504937.5:p.Ser171AlafsTer42
	ENST00000510385.5:c.508delG	ENST00000510385.5:p.Ser171AlafsTer48
	ENST00000576024.2:c.904delG	ENST00000576024.2:p.Ser303AlafsTer56
	ENST00000604348.6:c.883delG	ENST00000604348.6:p.Ser296AlafsTer42
	ENST00000610292.4:c.787delG	ENST00000610292.4:p.Ser264AlafsTer42
	ENST00000610538.4:c.787delG	ENST00000610538.4:p.Ser264AlafsTer40
	ENST00000610623.4:c.427delG	ENST00000610623.4:p.Ser144AlafsTer40
	ENST00000618944.4:c.427delG	ENST00000618944.4:p.Ser144AlafsTer48
	ENST00000619186.4:c.427delG	ENST00000619186.4:p.Ser144AlafsTer42
	ENST00000619485.4:c.787delG	ENST00000619485.4:p.Ser264AlafsTer42
	ENST00000620739.4:c.787delG	ENST00000620739.4:p.Ser264AlafsTer42
	ENST00000622645.4:c.787delG	ENST00000622645.4:p.Ser264AlafsTer48
	ENST00000714356.1:c.787delG	ENST00000714356.1:p.Ser264AlafsTer42

Summary

MGeND

Clinical significance
Variant entry
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	COSM6956522	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-06-02	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.906del (p.Ser303fs) 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: rs786202055 dbSNP
Genome: hg38
Position: chr17:7,673,716-7,673,716
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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