chr17:41215370:CTTT> 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	chr17:41,215,370-41,215,373
hg38	chr17:43,063,353-43,063,356

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007297.3:c.5029_5032delAAAG	NP_009228.2:p.Arg1679LysfsTer3
	NM_007299.3:c.1858_1861delAAAG	NP_009230.2:p.Arg622LysfsTer3
	NM_007294.3:c.5170_5173delAAAG	NP_009225.1:p.Arg1726LysfsTer3
	NM_007300.3:c.5233_5236delAAAG	NP_009231.2:p.Arg1747LysfsTer3
	NM_007298.3:c.1858_1861delAAAG	NP_009229.2:p.Arg622LysfsTer3
Ensemble	ENST00000493795.5:c.5029_5032delAAAG	ENST00000493795.5:p.Arg1679LysfsTer3
	ENST00000478531.6:c.1858_1861delAAAG	ENST00000478531.6:p.Arg622LysfsTer3
	ENST00000484087.6:c.1732_1735delAAAG	ENST00000484087.6:p.Arg580LysfsTer3
	ENST00000494123.6:c.5170_5173delAAAG	ENST00000494123.6:p.Arg1726LysfsTer3
	ENST00000477152.6:c.5092_5095delAAAG	ENST00000477152.6:p.Arg1700LysfsTer3
	ENST00000468300.5:c.1858_1861delAAAG	ENST00000468300.5:p.Arg622LysfsTer3
	ENST00000644555.2:c.1720_1723delAAAG	ENST00000644555.2:p.Arg576LysfsTer3
	ENST00000473961.6:c.5044_5047delAAAG	ENST00000473961.6:p.Arg1684LysfsTer3
	ENST00000493919.6:c.1720_1723delAAAG	ENST00000493919.6:p.Arg576LysfsTer3
	ENST00000352993.7:c.1744_1747delAAAG	ENST00000352993.7:p.Arg584LysfsTer3
	ENST00000461574.2:c.5167_5170delAAAG	ENST00000461574.2:p.Arg1725LysfsTer3
	ENST00000357654.9:c.5170_5173delAAAG	ENST00000357654.9:p.Arg1726LysfsTer3
	ENST00000497488.2:c.4282_4285delAAAG	ENST00000497488.2:p.Arg1430LysfsTer3
	ENST00000471181.7:c.5233_5236delAAAG	ENST00000471181.7:p.Arg1747LysfsTer3
	ENST00000591534.5:c.643_646delAAAG	ENST00000591534.5:p.Arg217LysfsTer3
	ENST00000491747.6:c.1858_1861delAAAG	ENST00000491747.6:p.Arg622LysfsTer3
	ENST00000470026.6:c.5170_5173delAAAG	ENST00000470026.6:p.Arg1726LysfsTer3
	ENST00000618469.2:c.5170_5173delAAAG	ENST00000618469.2:p.Arg1726LysfsTer3
	ENST00000586385.5:c.100_103delAAAG	ENST00000586385.5:p.Arg36LysfsTer3
	ENST00000644379.2:c.5236_5239delAAAG	ENST00000644379.2:p.Arg1748LysfsTer3
	ENST00000713676.1:c.5170_5173delAAAG	ENST00000713676.1:p.Arg1726LysfsTer3
	ENST00000591849.5:c.-98-13163_-98-13166delAAAG
	ENST00000634433.2:c.5047_5050delAAAG	ENST00000634433.2:p.Arg1685LysfsTer3
	ENST00000489037.2:c.5092_5095delAAAG	ENST00000489037.2:p.Arg1700LysfsTer3
	ENST00000476777.6:c.5164_5167delAAAG	ENST00000476777.6:p.Arg1724LysfsTer3

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
0.196	Breast Cancer, Familial	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
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: chr17:41,215,370-41,215,373
Variant Type: snv
Reference Allele: CTTT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8590
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): 120054
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): 8.3295850200743E-6

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