chr17:7591998:C>T Detail (hg19) (WRAP53)

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

Genome

Assembly	Position
hg19	chr17:7,591,998-7,591,998
hg38	chr17:7,688,680-7,688,680 View the variant detail on this assembly version.

HGVS

WRAP53

Type	Transcript	Protein
RefSeq	NM_001143991.1:c.32C>T	NP_001137463.1:p.Pro11Leu
	NM_001143992.1:c.32C>T	NP_001137464.1:p.Pro11Leu
	NM_018081.2:c.32C>T	NP_060551.2:p.Pro11Leu
	NM_001143990.1:c.32C>T	NP_001137462.1:p.Pro11Leu
Ensemble	ENST00000457584.6:c.32C>T	ENST00000457584.6:p.Pro11Leu
	ENST00000396463.7:c.32C>T	ENST00000396463.7:p.Pro11Leu
	ENST00000534050.5:c.32C>T	ENST00000534050.5:p.Pro11Leu
	ENST00000431639.6:c.32C>T	ENST00000431639.6:p.Pro11Leu
	ENST00000698746.1:c.32C>T	ENST00000698746.1:p.Pro11Leu
	ENST00000316024.9:c.32C>T	ENST00000316024.9:p.Pro11Leu
	ENST00000698742.1:c.32C>T	ENST00000698742.1:p.Pro11Leu

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	Uncertain significance
Review star
Show details

Links

WRAP53

Type	Database	ID	Link
Gene	MIM	612661	OMIM
	HGNC	25522	HGNC
	Ensembl	ENSG00000141499	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
Uncertain significance	2022-07-06	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.019	breast carcinoma	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail
0.240	Malignant neoplasm of breast	TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast ca...	BeFree	18058229	Detail
0.096	Malignant neoplasm of breast	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail
0.016	breast carcinoma	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail
0.099	Malignant neoplasm of breast	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail
0.080	breast carcinoma	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail
0.080	breast carcinoma	TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast ca...	BeFree	18058229	Detail
0.102	Malignant neoplasm of breast	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail
0.022	breast carcinoma	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail
0.240	Malignant neoplasm of breast	A case (n=250)-control (n=500) study was undertaken to investigate the role of S...	BeFree	18058229	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001143992.2(WRAP53):c.32C>T (p.Pro11Leu) AND not provided	ClinVar	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	DisGeNET	Detail
TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast cancer in south Indian...	DisGeNET	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	DisGeNET	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	DisGeNET	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	DisGeNET	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	DisGeNET	Detail
TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast cancer in south Indian...	DisGeNET	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	DisGeNET	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	DisGeNET	Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol...	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: -
Genome: hg19
Position: chr17:7,591,998-7,591,998
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8648
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121200
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.25082508250825E-6

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