chr17:7675207:GCAAAACATCTTGTTG> Detail (hg38) (TP53)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:7,578,525-7,578,540
hg38	chr17:7,675,207-7,675,222

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.390_405delCAACAAGATGTTTTGC	NP_000537.3:p.Lys132TrpfsTer33
	NM_001126112.2:c.390_405delCAACAAGATGTTTTGC	NP_001119584.1:p.Lys132TrpfsTer33
	NM_001276760.1:c.390_405delCAACAAGATGTTTTGC	NP_001263689.1:p.Lys132TrpfsTer33
	NM_001276761.1:c.390_405delCAACAAGATGTTTTGC	NP_001263690.1:p.Lys132TrpfsTer33
	NM_001126113.2:c.390_405delCAACAAGATGTTTTGC	NP_001119585.1:p.Lys132TrpfsTer33
	NM_001276695.1:c.390_405delCAACAAGATGTTTTGC	NP_001263624.1:p.Lys132TrpfsTer33
	NM_001126116.1:c.-7_9delCAACAAGATGTTTTGC	NP_001119588.1:p.?
	NM_001276698.1:c.-7_9delCAACAAGATGTTTTGC	NP_001263627.1:p.?
	NM_001126118.1:c.273_288delCAACAAGATGTTTTGC	NP_001119590.1:p.Lys93TrpfsTer33
	NM_001126117.1:c.-73_-88delCAACAAGATGTTTTGC
	NM_001276699.1:c.-73_-88delCAACAAGATGTTTTGC
	NM_001126115.1:c.-73_-88delCAACAAGATGTTTTGC
	NM_001276697.1:c.-73_-88delCAACAAGATGTTTTGC
	NM_001276696.1:c.273_288delCAACAAGATGTTTTGC	NP_001263625.1:p.Lys93TrpfsTer33
Ensemble	ENST00000269305.9:c.390_405delCAACAAGATGTTTTGC	ENST00000269305.9:p.Lys132TrpfsTer33
	ENST00000359597.8:c.390_405delCAACAAGATGTTTTGC	ENST00000359597.8:p.Lys132TrpfsTer33
	ENST00000413465.6:c.390_405delCAACAAGATGTTTTGC	ENST00000413465.6:p.Lys132TrpfsTer33
	ENST00000420246.6:c.390_405delCAACAAGATGTTTTGC	ENST00000420246.6:p.Lys132TrpfsTer33
	ENST00000445888.6:c.390_405delCAACAAGATGTTTTGC	ENST00000445888.6:p.Lys132TrpfsTer33
	ENST00000455263.6:c.390_405delCAACAAGATGTTTTGC	ENST00000455263.6:p.Lys132TrpfsTer33
	ENST00000504290.5:c.-7_9delCAACAAGATGTTTTGC	ENST00000504290.5:p.?
	ENST00000504937.5:c.-7_9delCAACAAGATGTTTTGC	ENST00000504937.5:p.?
	ENST00000510385.5:c.-7_9delCAACAAGATGTTTTGC	ENST00000510385.5:p.?
	ENST00000576024.2:c.390_405delCAACAAGATGTTTTGC	ENST00000576024.2:p.Lys132TrpfsTer33
	ENST00000604348.6:c.376-7_384delCAACAAGATGTTTTGC	ENST00000604348.6:p.Met126_Cys128del
	ENST00000610292.4:c.273_288delCAACAAGATGTTTTGC	ENST00000610292.4:p.Lys93TrpfsTer33
	ENST00000610538.4:c.273_288delCAACAAGATGTTTTGC	ENST00000610538.4:p.Lys93TrpfsTer33
	ENST00000610623.4:c.-73_-88delCAACAAGATGTTTTGC
	ENST00000618944.4:c.-73_-88delCAACAAGATGTTTTGC
	ENST00000619186.4:c.-73_-88delCAACAAGATGTTTTGC
	ENST00000619485.4:c.273_288delCAACAAGATGTTTTGC	ENST00000619485.4:p.Lys93TrpfsTer33
	ENST00000620739.4:c.273_288delCAACAAGATGTTTTGC	ENST00000620739.4:p.Lys93TrpfsTer33
	ENST00000622645.4:c.273_288delCAACAAGATGTTTTGC	ENST00000622645.4:p.Lys93TrpfsTer33
	ENST00000714356.1:c.273_288delCAACAAGATGTTTTGC	ENST00000714356.1:p.Lys93TrpfsTer33
	ENST00000714357.1:c.390_405delCAACAAGATGTTTTGC	ENST00000714357.1:p.Lys132TrpfsTer33
	ENST00000714359.1:c.390_405delCAACAAGATGTTTTGC	ENST00000714359.1:p.Lys132TrpfsTer33
	ENST00000714408.1:c.390_405delCAACAAGATGTTTTGC	ENST00000714408.1:p.Lys132TrpfsTer33
	ENST00000714409.1:c.390_405delCAACAAGATGTTTTGC	ENST00000714409.1:p.Lys132TrpfsTer33

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	2018-02-01	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.394_409del (p.Lys132fs) 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: rs786203589 dbSNP
Genome: hg38
Position: chr17:7,675,207-7,675,222
Variant Type: snv
Reference Allele: GCAAAACATCTTGTTG
Alternative Allele: -

Genome browser