chr17:41243849:TTTAC> Detail (hg19) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,243,849-41,243,853
hg38	chr17:43,091,832-43,091,836

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.788-804_788-800delGTAAA
	NM_007297.3:c.3554_3558delGTAAA	NP_009228.2:p.Val1187GlnfsTer8
	NM_007299.3:c.788-804_788-800delGTAAA
	NM_007294.3:c.3695_3699delGTAAA	NP_009225.1:p.Val1234GlnfsTer8
	NM_007300.3:c.3695_3699delGTAAA	NP_009231.2:p.Val1234GlnfsTer8
Ensemble	ENST00000470026.6:c.3695_3699delGTAAA	ENST00000470026.6:p.Val1234GlnfsTer8
	ENST00000491747.6:c.788-804_788-800delGTAAA
	ENST00000586385.5:c.5-27885_5-27881delGTAAA
	ENST00000618469.2:c.3695_3699delGTAAA	ENST00000618469.2:p.Val1234GlnfsTer8
	ENST00000713676.1:c.3695_3699delGTAAA	ENST00000713676.1:p.Val1234GlnfsTer8
	ENST00000644379.2:c.3695_3699delGTAAA	ENST00000644379.2:p.Val1234GlnfsTer8
	ENST00000591849.5:c.-99+33439_-99+33435delGTAAA
	ENST00000634433.2:c.3572_3576delGTAAA	ENST00000634433.2:p.Val1193GlnfsTer8
	ENST00000489037.2:c.3617_3621delGTAAA	ENST00000489037.2:p.Val1208GlnfsTer8
	ENST00000476777.6:c.3692_3696delGTAAA	ENST00000476777.6:p.Val1233GlnfsTer8
	ENST00000700182.1:c.707-804_707-800delGTAAA
	ENST00000493795.5:c.3554_3558delGTAAA	ENST00000493795.5:p.Val1187GlnfsTer8
	ENST00000484087.6:c.665-804_665-800delGTAAA
	ENST00000494123.6:c.3695_3699delGTAAA	ENST00000494123.6:p.Val1234GlnfsTer8
	ENST00000478531.6:c.785-804_785-800delGTAAA
	ENST00000477152.6:c.3617_3621delGTAAA	ENST00000477152.6:p.Val1208GlnfsTer8
	ENST00000473961.6:c.3569_3573delGTAAA	ENST00000473961.6:p.Val1192GlnfsTer8
	ENST00000468300.5:c.788-804_788-800delGTAAA
	ENST00000644555.2:c.647-804_647-800delGTAAA
	ENST00000493919.6:c.647-804_647-800delGTAAA
	ENST00000352993.7:c.671-804_671-800delGTAAA
	ENST00000357654.9:c.3695_3699delGTAAA	ENST00000357654.9:p.Val1234GlnfsTer8
	ENST00000461574.2:c.3695_3699delGTAAA	ENST00000461574.2:p.Val1234GlnfsTer8
	ENST00000471181.7:c.3695_3699delGTAAA	ENST00000471181.7:p.Val1234GlnfsTer8
	ENST00000497488.2:c.2807_2811delGTAAA	ENST00000497488.2:p.Val938GlnfsTer8
	ENST00000591534.5:c.-43-17311_-43-17315delGTAAA

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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: -
dbSNP: rs80357609 dbSNP
Genome: hg19
Position: chr17:41,243,849-41,243,853
Variant Type: snv
Reference Allele: TTTAC
Alternative Allele: -

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