chr17:7578115:T>G 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	chr17:7,578,115-7,578,115
hg38	chr17:7,674,797-7,674,797 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126113.2:c.672+62A>C
	NM_001276695.1:c.672+62A>C
	NM_001126115.1:c.195+62A>C
	NM_001276697.1:c.195+62A>C
	NM_001126117.1:c.195+62A>C
	NM_001276699.1:c.195+62A>C
	NM_001276696.1:c.555+62A>C
	NM_001126118.1:c.555+62A>C
	NM_000546.5:c.672+62A>C
	NM_001126112.2:c.672+62A>C
	NM_001276760.1:c.672+62A>C
	NM_001276761.1:c.672+62A>C
	NM_001126116.1:c.276+62A>C
	NM_001276698.1:c.276+62A>C
Ensemble	ENST00000618944.4:c.195+62A>C
	ENST00000445888.6:c.672+62A>C
	ENST00000455263.6:c.672+62A>C
	ENST00000619485.4:c.555+62A>C
	ENST00000620739.4:c.555+62A>C
	ENST00000504937.5:c.276+62A>C
	ENST00000619186.4:c.195+62A>C
	ENST00000714408.1:c.672+62A>C
	ENST00000576024.2:c.672+62A>C
	ENST00000610623.4:c.195+62A>C
	ENST00000420246.6:c.672+62A>C
	ENST00000622645.4:c.555+62A>C
	ENST00000714409.1:c.672+62A>C
	ENST00000604348.6:c.651+62A>C
	ENST00000359597.8:c.672+62A>C
	ENST00000413465.6:c.672+62A>C
	ENST00000714356.1:c.555+62A>C
	ENST00000714359.1:c.672+62A>C
	ENST00000610292.4:c.555+62A>C
	ENST00000504290.5:c.276+62A>C
	ENST00000269305.9:c.672+62A>C
	ENST00000714357.1:c.672+62A>C
	ENST00000510385.5:c.276+62A>C
	ENST00000610538.4:c.555+62A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.080	Carcinoma of lung	When individuals with variant-containing genotypes were compared with homozygous...	BeFree	17908995	Detail
0.027	diffuse large B-cell lymphoma	The G/G genotype of the TP53 rs1625895 polymorphism was shown to be associated w...	BeFree	25430047	Detail
0.002	Malignant neoplasm of lung	When individuals with variant-containing genotypes were compared with homozygous...	BeFree	17908995	Detail
0.160	Malignant neoplasm of lung	When individuals with variant-containing genotypes were compared with homozygous...	BeFree	17908995	Detail
0.014	diffuse large B-cell lymphoma	The G/G genotype of the TP53 rs1625895 polymorphism was shown to be associated w...	BeFree	25430047	Detail
0.002	Carcinoma of lung	When individuals with variant-containing genotypes were compared with homozygous...	BeFree	17908995	Detail

Annotation

Annotations

Descrption	Source	Links
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,...	DisGeNET	Detail
The G/G genotype of the TP53 rs1625895 polymorphism was shown to be associated with a high probabili...	DisGeNET	Detail
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,...	DisGeNET	Detail
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,...	DisGeNET	Detail
The G/G genotype of the TP53 rs1625895 polymorphism was shown to be associated with a high probabili...	DisGeNET	Detail
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,...	DisGeNET	Detail
Non melanoma specific model (ovarian cancer)	MMMP	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr17:7,578,115-7,578,115
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 5740
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.7421602787456446E-4
Chromosome Counts in All Race (ExAC): 89300
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 0
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.1198208286674133E-5
MMMP State (molecule) (MMMP): polymorphism rs1625895

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