chr17:7676232:G>AC 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	chr17:7,579,550-7,579,550 View the variant detail on this assembly version.
hg38	chr17:7,676,232-7,676,232

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.137delinsGT	NP_000537.3:p.Ser46CysfsTer6
	NM_001126112.2:c.137delinsGT	NP_001119584.1:p.Ser46CysfsTer6
	NM_001276760.1:c.137delinsGT	NP_001263689.1:p.Ser46CysfsTer6
	NM_001276761.1:c.137delinsGT	NP_001263690.1:p.Ser46CysfsTer6
	NM_001126113.2:c.137delinsGT	NP_001119585.1:p.Ser46CysfsTer6
	NM_001276695.1:c.137delinsGT	NP_001263624.1:p.Ser46CysfsTer6
	NM_001126118.1:c.20delinsGT	NP_001119590.1:p.Ser7CysfsTer6
	NM_001276696.1:c.20delinsGT	NP_001263625.1:p.Ser7CysfsTer6
Ensemble	ENST00000269305.9:c.137delinsGT	ENST00000269305.9:p.Ser46CysfsTer6
	ENST00000359597.8:c.137delinsGT	ENST00000359597.8:p.Ser46CysfsTer6
	ENST00000413465.6:c.137delinsGT	ENST00000413465.6:p.Ser46CysfsTer6
	ENST00000420246.6:c.137delinsGT	ENST00000420246.6:p.Ser46CysfsTer6
	ENST00000445888.6:c.137delinsGT	ENST00000445888.6:p.Ser46CysfsTer6
	ENST00000455263.6:c.137delinsGT	ENST00000455263.6:p.Ser46CysfsTer6
	ENST00000576024.2:c.137delinsGT	ENST00000576024.2:p.Ser46CysfsTer6
	ENST00000604348.6:c.137delinsGT	ENST00000604348.6:p.Ser46CysfsTer6
	ENST00000610292.4:c.20delinsGT	ENST00000610292.4:p.Ser7CysfsTer6
	ENST00000610538.4:c.20delinsGT	ENST00000610538.4:p.Ser7CysfsTer6
	ENST00000619485.4:c.20delinsGT	ENST00000619485.4:p.Ser7CysfsTer6
	ENST00000620739.4:c.20delinsGT	ENST00000620739.4:p.Ser7CysfsTer6
	ENST00000622645.4:c.20delinsGT	ENST00000622645.4:p.Ser7CysfsTer6
	ENST00000714356.1:c.20delinsGT	ENST00000714356.1:p.Ser7CysfsTer6
	ENST00000714357.1:c.137delinsGT	ENST00000714357.1:p.Ser46CysfsTer6
	ENST00000714359.1:c.137delinsGT	ENST00000714359.1:p.Ser46CysfsTer6
	ENST00000714408.1:c.137delinsGT	ENST00000714408.1:p.Ser46CysfsTer6
	ENST00000714409.1:c.137delinsGT	ENST00000714409.1:p.Ser46CysfsTer6

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-02-13	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.137delinsGT (p.Ser46fs) 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: rs587782650 dbSNP
Genome: hg38
Position: chr17:7,676,232-7,676,232
Variant Type: snv
Reference Allele: G
Alternative Allele: AC

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