chr17:7578221:TT> Detail (hg19) (TP53)

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

Genome

Assembly	Position
hg19	chr17:7,578,221-7,578,222
hg38	chr17:7,674,903-7,674,904

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126116.1:c.231_232delAA	NP_001119588.1:p.Asn78HisfsTer5
	NM_001276698.1:c.231_232delAA	NP_001263627.1:p.Asn78HisfsTer5
	NM_001276696.1:c.510_511delAA	NP_001263625.1:p.Asn171HisfsTer5
	NM_001126113.2:c.627_628delAA	NP_001119585.1:p.Asn210HisfsTer5
	NM_001276695.1:c.627_628delAA	NP_001263624.1:p.Asn210HisfsTer5
	NM_001126117.1:c.150_151delAA	NP_001119589.1:p.Asn51HisfsTer5
	NM_001276699.1:c.150_151delAA	NP_001263628.1:p.Asn51HisfsTer5
	NM_000546.5:c.627_628delAA	NP_000537.3:p.Asn210HisfsTer5
	NM_001126112.2:c.627_628delAA	NP_001119584.1:p.Asn210HisfsTer5
	NM_001276760.1:c.627_628delAA	NP_001263689.1:p.Asn210HisfsTer5
	NM_001276761.1:c.627_628delAA	NP_001263690.1:p.Asn210HisfsTer5
	NM_001126115.1:c.150_151delAA	NP_001119587.1:p.Asn51HisfsTer5
	NM_001276697.1:c.150_151delAA	NP_001263626.1:p.Asn51HisfsTer5
	NM_001126118.1:c.510_511delAA	NP_001119590.1:p.Asn171HisfsTer5
Ensemble	ENST00000504290.5:c.231_232delAA	ENST00000504290.5:p.Asn78HisfsTer5
	ENST00000714357.1:c.627_628delAA	ENST00000714357.1:p.Asn210HisfsTer5
	ENST00000510385.5:c.231_232delAA	ENST00000510385.5:p.Asn78HisfsTer5
	ENST00000610538.4:c.510_511delAA	ENST00000610538.4:p.Asn171HisfsTer5
	ENST00000420246.6:c.627_628delAA	ENST00000420246.6:p.Asn210HisfsTer5
	ENST00000622645.4:c.510_511delAA	ENST00000622645.4:p.Asn171HisfsTer5
	ENST00000359597.8:c.627_628delAA	ENST00000359597.8:p.Asn210HisfsTer5
	ENST00000714356.1:c.510_511delAA	ENST00000714356.1:p.Asn171HisfsTer5
	ENST00000714359.1:c.627_628delAA	ENST00000714359.1:p.Asn210HisfsTer5
	ENST00000455263.6:c.627_628delAA	ENST00000455263.6:p.Asn210HisfsTer5
	ENST00000504937.5:c.231_232delAA	ENST00000504937.5:p.Asn78HisfsTer5
	ENST00000714408.1:c.627_628delAA	ENST00000714408.1:p.Asn210HisfsTer5
	ENST00000576024.2:c.627_628delAA	ENST00000576024.2:p.Asn210HisfsTer5
	ENST00000610623.4:c.150_151delAA	ENST00000610623.4:p.Asn51HisfsTer5
	ENST00000618944.4:c.150_151delAA	ENST00000618944.4:p.Asn51HisfsTer5
	ENST00000445888.6:c.627_628delAA	ENST00000445888.6:p.Asn210HisfsTer5
	ENST00000269305.9:c.627_628delAA	ENST00000269305.9:p.Asn210HisfsTer5
	ENST00000604348.6:c.606_607delAA	ENST00000604348.6:p.Asn203HisfsTer5
	ENST00000714409.1:c.627_628delAA	ENST00000714409.1:p.Asn210HisfsTer5
	ENST00000619485.4:c.510_511delAA	ENST00000619485.4:p.Asn171HisfsTer5
	ENST00000620739.4:c.510_511delAA	ENST00000620739.4:p.Asn171HisfsTer5
	ENST00000619186.4:c.150_151delAA	ENST00000619186.4:p.Asn51HisfsTer5
	ENST00000610292.4:c.510_511delAA	ENST00000610292.4:p.Asn171HisfsTer5
	ENST00000413465.6:c.627_628delAA	ENST00000413465.6:p.Asn210HisfsTer5

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	COSM6922629	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 syndrome 1	germline	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.628_629del (p.Asn210fs) 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: rs587776768 dbSNP
Genome: hg19
Position: chr17:7,578,221-7,578,222
Variant Type: snv
Reference Allele: TT
Alternative Allele: -

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