chr17:7676011:T>A 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	chr17:7,579,329-7,579,329 View the variant detail on this assembly version.
hg38	chr17:7,676,011-7,676,011

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.358A>T	NP_000537.3:p.Lys120Ter
	NM_001126112.2:c.358A>T	NP_001119584.1:p.Lys120Ter
	NM_001276760.1:c.358A>T	NP_001263689.1:p.Lys120Ter
	NM_001276761.1:c.358A>T	NP_001263690.1:p.Lys120Ter
	NM_001126113.2:c.358A>T	NP_001119585.1:p.Lys120Ter
	NM_001276695.1:c.358A>T	NP_001263624.1:p.Lys120Ter
	NM_001126118.1:c.241A>T	NP_001119590.1:p.Lys81Ter
	NM_001276696.1:c.241A>T	NP_001263625.1:p.Lys81Ter
Ensemble	ENST00000269305.9:c.358A>T	ENST00000269305.9:p.Lys120Ter
	ENST00000359597.8:c.358A>T	ENST00000359597.8:p.Lys120Ter
	ENST00000413465.6:c.358A>T	ENST00000413465.6:p.Lys120Ter
	ENST00000420246.6:c.358A>T	ENST00000420246.6:p.Lys120Ter
	ENST00000445888.6:c.358A>T	ENST00000445888.6:p.Lys120Ter
	ENST00000455263.6:c.358A>T	ENST00000455263.6:p.Lys120Ter
	ENST00000576024.2:c.358A>T	ENST00000576024.2:p.Lys120Ter
	ENST00000604348.6:c.358A>T	ENST00000604348.6:p.Lys120Ter
	ENST00000610292.4:c.241A>T	ENST00000610292.4:p.Lys81Ter
	ENST00000610538.4:c.241A>T	ENST00000610538.4:p.Lys81Ter
	ENST00000619485.4:c.241A>T	ENST00000619485.4:p.Lys81Ter
	ENST00000620739.4:c.241A>T	ENST00000620739.4:p.Lys81Ter
	ENST00000622645.4:c.241A>T	ENST00000622645.4:p.Lys81Ter
	ENST00000714356.1:c.241A>T	ENST00000714356.1:p.Lys81Ter
	ENST00000714357.1:c.358A>T	ENST00000714357.1:p.Lys120Ter
	ENST00000714359.1:c.358A>T	ENST00000714359.1:p.Lys120Ter
	ENST00000714408.1:c.358A>T	ENST00000714408.1:p.Lys120Ter
	ENST00000714409.1:c.358A>T	ENST00000714409.1:p.Lys120Ter

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	COSM2744994	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1995-01-01	no assertion criteria provided	Li-fraumeni-like syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.126	Li-fraumeni-like syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.358A>T (p.Lys120Ter) AND Li-fraumeni-like syndrome	ClinVar	Detail
NA	DisGeNET	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: rs121912658 dbSNP
Genome: hg38
Position: chr17:7,676,011-7,676,011
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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