chr17:7579360:G> 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	chr17:7,579,360-7,579,360
hg38	chr17:7,676,042-7,676,042

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126118.1:c.210delC	NP_001119590.1:p.Arg71ValfsTer13
	NM_001276696.1:c.210delC	NP_001263625.1:p.Arg71ValfsTer13
	NM_001126113.2:c.327delC	NP_001119585.1:p.Arg110ValfsTer13
	NM_001276695.1:c.327delC	NP_001263624.1:p.Arg110ValfsTer13
	NM_000546.5:c.327delC	NP_000537.3:p.Arg110ValfsTer13
	NM_001126112.2:c.327delC	NP_001119584.1:p.Arg110ValfsTer13
	NM_001276760.1:c.327delC	NP_001263689.1:p.Arg110ValfsTer13
	NM_001276761.1:c.327delC	NP_001263690.1:p.Arg110ValfsTer13
Ensemble	ENST00000714408.1:c.327delC	ENST00000714408.1:p.Arg110ValfsTer13
	ENST00000445888.6:c.327delC	ENST00000445888.6:p.Arg110ValfsTer13
	ENST00000610538.4:c.210delC	ENST00000610538.4:p.Arg71ValfsTer13
	ENST00000610292.4:c.210delC	ENST00000610292.4:p.Arg71ValfsTer13
	ENST00000714359.1:c.327delC	ENST00000714359.1:p.Arg110ValfsTer13
	ENST00000604348.6:c.327delC	ENST00000604348.6:p.Arg110ValfsTer13
	ENST00000359597.8:c.327delC	ENST00000359597.8:p.Arg110ValfsTer13
	ENST00000714409.1:c.327delC	ENST00000714409.1:p.Arg110ValfsTer13
	ENST00000622645.4:c.210delC	ENST00000622645.4:p.Arg71ValfsTer13
	ENST00000420246.6:c.327delC	ENST00000420246.6:p.Arg110ValfsTer13
	ENST00000576024.2:c.327delC	ENST00000576024.2:p.Arg110ValfsTer13
	ENST00000619485.4:c.210delC	ENST00000619485.4:p.Arg71ValfsTer13
	ENST00000620739.4:c.210delC	ENST00000620739.4:p.Arg71ValfsTer13
	ENST00000455263.6:c.327delC	ENST00000455263.6:p.Arg110ValfsTer13
	ENST00000714357.1:c.327delC	ENST00000714357.1:p.Arg110ValfsTer13
	ENST00000269305.9:c.327delC	ENST00000269305.9:p.Arg110ValfsTer13
	ENST00000413465.6:c.327delC	ENST00000413465.6:p.Arg110ValfsTer13
	ENST00000714356.1:c.210delC	ENST00000714356.1:p.Arg71ValfsTer13

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	COSM4449790	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-05-15	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2024-02-12	criteria provided, multiple submitters, no conflicts	Li-Fraumeni syndrome 1	germline unknown	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.328del (p.Arg110fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.328del (p.Arg110fs) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.328del (p.Arg110fs) AND Li-Fraumeni syndrome 1	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: rs587780066 dbSNP
Genome: hg19
Position: chr17:7,579,360-7,579,360
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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