chr17:41243779:CT> Detail (hg19) (BRCA1)

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

Genome

Assembly	Position
hg19	chr17:41,243,779-41,243,780
hg38	chr17:43,091,762-43,091,763

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.788-731_788-730delAG
	NM_007299.3:c.788-731_788-730delAG
	NM_007297.3:c.3627_3628delAG	NP_009228.2:p.Glu1210GlyfsTer9
	NM_007300.3:c.3768_3769delAG	NP_009231.2:p.Glu1257GlyfsTer9
	NM_007294.3:c.3768_3769delAG	NP_009225.1:p.Glu1257GlyfsTer9
Ensemble	ENST00000634433.2:c.3645_3646delAG	ENST00000634433.2:p.Glu1216GlyfsTer9
	ENST00000591849.5:c.-99+33509_-99+33508delAG
	ENST00000644379.2:c.3768_3769delAG	ENST00000644379.2:p.Glu1257GlyfsTer9
	ENST00000713676.1:c.3768_3769delAG	ENST00000713676.1:p.Glu1257GlyfsTer9
	ENST00000618469.2:c.3768_3769delAG	ENST00000618469.2:p.Glu1257GlyfsTer9
	ENST00000586385.5:c.5-27812_5-27811delAG
	ENST00000491747.6:c.788-731_788-730delAG
	ENST00000470026.6:c.3768_3769delAG	ENST00000470026.6:p.Glu1257GlyfsTer9
	ENST00000700182.1:c.707-731_707-730delAG
	ENST00000476777.6:c.3765_3766delAG	ENST00000476777.6:p.Glu1256GlyfsTer9
	ENST00000489037.2:c.3690_3691delAG	ENST00000489037.2:p.Glu1231GlyfsTer9
	ENST00000468300.5:c.788-731_788-730delAG
	ENST00000644555.2:c.647-731_647-730delAG
	ENST00000473961.6:c.3642_3643delAG	ENST00000473961.6:p.Glu1215GlyfsTer9
	ENST00000477152.6:c.3690_3691delAG	ENST00000477152.6:p.Glu1231GlyfsTer9
	ENST00000478531.6:c.785-731_785-730delAG
	ENST00000484087.6:c.665-731_665-730delAG
	ENST00000494123.6:c.3768_3769delAG	ENST00000494123.6:p.Glu1257GlyfsTer9
	ENST00000493795.5:c.3627_3628delAG	ENST00000493795.5:p.Glu1210GlyfsTer9
	ENST00000591534.5:c.-43-17241_-43-17242delAG
	ENST00000497488.2:c.2880_2881delAG	ENST00000497488.2:p.Glu961GlyfsTer9
	ENST00000471181.7:c.3768_3769delAG	ENST00000471181.7:p.Glu1257GlyfsTer9
	ENST00000461574.2:c.3768_3769delAG	ENST00000461574.2:p.Glu1257GlyfsTer9
	ENST00000357654.9:c.3768_3769delAG	ENST00000357654.9:p.Glu1257GlyfsTer9
	ENST00000352993.7:c.671-731_671-730delAG
	ENST00000493919.6:c.647-731_647-730delAG

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

BRCA1

Type	Database	ID	Link
Gene	MIM	113705	OMIM
	HGNC	1100	HGNC
	Ensembl	ENSG00000012048	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	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR	Detail
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR	Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
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: hg19
Position: chr17:41,243,779-41,243,780
Variant Type: snv
Reference Allele: CT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8654
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): 121396
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): 8.237503706876667E-6

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