chr17:7676106:G> 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	chr17:7,579,424-7,579,424
hg38	chr17:7,676,106-7,676,106

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.263delC	NP_000537.3:p.Ser90ProfsTer33
	NM_001126112.2:c.263delC	NP_001119584.1:p.Ser90ProfsTer33
	NM_001276760.1:c.263delC	NP_001263689.1:p.Ser90ProfsTer33
	NM_001276761.1:c.263delC	NP_001263690.1:p.Ser90ProfsTer33
	NM_001126113.2:c.263delC	NP_001119585.1:p.Ser90ProfsTer33
	NM_001276695.1:c.263delC	NP_001263624.1:p.Ser90ProfsTer33
	NM_001126118.1:c.146delC	NP_001119590.1:p.Ser51ProfsTer33
	NM_001276696.1:c.146delC	NP_001263625.1:p.Ser51ProfsTer33
Ensemble	ENST00000269305.9:c.263delC	ENST00000269305.9:p.Ser90ProfsTer33
	ENST00000359597.8:c.263delC	ENST00000359597.8:p.Ser90ProfsTer33
	ENST00000413465.6:c.263delC	ENST00000413465.6:p.Ser90ProfsTer33
	ENST00000619485.4:c.146delC	ENST00000619485.4:p.Ser51ProfsTer33
	ENST00000714359.1:c.263delC	ENST00000714359.1:p.Ser90ProfsTer33
	ENST00000714408.1:c.263delC	ENST00000714408.1:p.Ser90ProfsTer33
	ENST00000420246.6:c.263delC	ENST00000420246.6:p.Ser90ProfsTer33
	ENST00000445888.6:c.263delC	ENST00000445888.6:p.Ser90ProfsTer33
	ENST00000455263.6:c.263delC	ENST00000455263.6:p.Ser90ProfsTer33
	ENST00000576024.2:c.263delC	ENST00000576024.2:p.Ser90ProfsTer33
	ENST00000604348.6:c.263delC	ENST00000604348.6:p.Ser90ProfsTer33
	ENST00000610292.4:c.146delC	ENST00000610292.4:p.Ser51ProfsTer33
	ENST00000610538.4:c.146delC	ENST00000610538.4:p.Ser51ProfsTer33
	ENST00000620739.4:c.146delC	ENST00000620739.4:p.Ser51ProfsTer33
	ENST00000622645.4:c.146delC	ENST00000622645.4:p.Ser51ProfsTer33
	ENST00000714356.1:c.146delC	ENST00000714356.1:p.Ser51ProfsTer33
	ENST00000714357.1:c.263delC	ENST00000714357.1:p.Ser90ProfsTer33
	ENST00000714409.1:c.263delC	ENST00000714409.1:p.Ser90ProfsTer33

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM46063	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-02-12	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.267del (p.Ser90fs) 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: rs587783062 dbSNP
Genome: hg38
Position: chr17:7,676,106-7,676,106
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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