chr17:7676005:CA> Detail (hg38) (TP53)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:7,579,323-7,579,324
hg38	chr17:7,676,005-7,676,006

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.363_364delTG	NP_000537.3:p.Val122AspfsTer26
	NM_001126112.2:c.363_364delTG	NP_001119584.1:p.Val122AspfsTer26
	NM_001276760.1:c.363_364delTG	NP_001263689.1:p.Val122AspfsTer26
	NM_001276761.1:c.363_364delTG	NP_001263690.1:p.Val122AspfsTer26
	NM_001126113.2:c.363_364delTG	NP_001119585.1:p.Val122AspfsTer26
	NM_001276695.1:c.363_364delTG	NP_001263624.1:p.Val122AspfsTer26
	NM_001126118.1:c.246_247delTG	NP_001119590.1:p.Val83AspfsTer26
	NM_001276696.1:c.246_247delTG	NP_001263625.1:p.Val83AspfsTer26
Ensemble	ENST00000420246.6:c.363_364delTG	ENST00000420246.6:p.Val122AspfsTer26
	ENST00000445888.6:c.363_364delTG	ENST00000445888.6:p.Val122AspfsTer26
	ENST00000714409.1:c.363_364delTG	ENST00000714409.1:p.Val122AspfsTer26
	ENST00000269305.9:c.363_364delTG	ENST00000269305.9:p.Val122AspfsTer26
	ENST00000359597.8:c.363_364delTG	ENST00000359597.8:p.Val122AspfsTer26
	ENST00000413465.6:c.363_364delTG	ENST00000413465.6:p.Val122AspfsTer26
	ENST00000455263.6:c.363_364delTG	ENST00000455263.6:p.Val122AspfsTer26
	ENST00000576024.2:c.363_364delTG	ENST00000576024.2:p.Val122AspfsTer26
	ENST00000604348.6:c.363_364delTG	ENST00000604348.6:p.Val122AspfsTer19
	ENST00000610292.4:c.246_247delTG	ENST00000610292.4:p.Val83AspfsTer26
	ENST00000610538.4:c.246_247delTG	ENST00000610538.4:p.Val83AspfsTer26
	ENST00000619485.4:c.246_247delTG	ENST00000619485.4:p.Val83AspfsTer26
	ENST00000620739.4:c.246_247delTG	ENST00000620739.4:p.Val83AspfsTer26
	ENST00000622645.4:c.246_247delTG	ENST00000622645.4:p.Val83AspfsTer26
	ENST00000714356.1:c.246_247delTG	ENST00000714356.1:p.Val83AspfsTer26
	ENST00000714357.1:c.363_364delTG	ENST00000714357.1:p.Val122AspfsTer26
	ENST00000714359.1:c.363_364delTG	ENST00000714359.1:p.Val122AspfsTer26
	ENST00000714408.1:c.363_364delTG	ENST00000714408.1:p.Val122AspfsTer26

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM4603789	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs587780067 dbSNP
Genome: hg38
Position: chr17:7,676,005-7,676,006
Variant Type: snv
Reference Allele: CA
Alternative Allele: -

Genome browser