chr13:32338770:AGAA> Detail (hg38) (BRCA2)

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

Genome

Assembly	Position
hg19	chr13:32,912,907-32,912,910
hg38	chr13:32,338,770-32,338,773

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.4415_4418delAGAA	NP_000050.2:p.Lys1472ThrfsTer6
Ensemble	ENST00000380152.8:c.4415_4418delAGAA	ENST00000380152.8:p.Lys1472ThrfsTer6
	ENST00000530893.7:c.4046_4049delAGAA	ENST00000530893.7:p.Lys1349ThrfsTer6
	ENST00000544455.6:c.4415_4418delAGAA	ENST00000544455.6:p.Lys1472ThrfsTer6
	ENST00000700202.2:c.4415_4418delAGAA	ENST00000700202.2:p.Lys1472ThrfsTer6
	ENST00000713678.1:c.4415_4418delAGAA	ENST00000713678.1:p.Lys1472ThrfsTer6
	ENST00000713680.1:c.4415_4418delAGAA	ENST00000713680.1:p.Lys1472ThrfsTer6

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

BRCA2

Type	Database	ID	Link
Gene	MIM	600185	OMIM
	HGNC	1101	HGNC
	Ensembl	ENSG00000139618	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
0.240	Breast-ovarian cancer, familial, susceptibility to, 2	NA	CLINVAR		Detail
0.391	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: -
Genome: hg38
Position: chr13:32,338,770-32,338,773
Variant Type: snv
Reference Allele: AGAA
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8618
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): 119352
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): 8.378577652657685E-6

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