chr17:41243794:GACA> 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	chr17:41,243,794-41,243,797
hg38	chr17:43,091,777-43,091,780

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007297.3:c.3610_3613delTGTC	NP_009228.2:p.Ser1206ArgfsTer10
	NM_007299.3:c.788-748_788-745delTGTC
	NM_007300.3:c.3751_3754delTGTC	NP_009231.2:p.Ser1253ArgfsTer10
	NM_007294.3:c.3751_3754delTGTC	NP_009225.1:p.Ser1253ArgfsTer10
	NM_007298.3:c.788-748_788-745delTGTC
Ensemble	ENST00000478531.6:c.785-748_785-745delTGTC
	ENST00000484087.6:c.665-748_665-745delTGTC
	ENST00000494123.6:c.3751_3754delTGTC	ENST00000494123.6:p.Ser1253ArgfsTer10
	ENST00000493795.5:c.3610_3613delTGTC	ENST00000493795.5:p.Ser1206ArgfsTer10
	ENST00000468300.5:c.788-748_788-745delTGTC
	ENST00000644555.2:c.647-748_647-745delTGTC
	ENST00000473961.6:c.3625_3628delTGTC	ENST00000473961.6:p.Ser1211ArgfsTer10
	ENST00000477152.6:c.3673_3676delTGTC	ENST00000477152.6:p.Ser1227ArgfsTer10
	ENST00000352993.7:c.671-748_671-745delTGTC
	ENST00000493919.6:c.647-748_647-745delTGTC
	ENST00000591534.5:c.-43-17256_-43-17259delTGTC
	ENST00000497488.2:c.2863_2866delTGTC	ENST00000497488.2:p.Ser957ArgfsTer10
	ENST00000471181.7:c.3751_3754delTGTC	ENST00000471181.7:p.Ser1253ArgfsTer10
	ENST00000461574.2:c.3751_3754delTGTC	ENST00000461574.2:p.Ser1253ArgfsTer10
	ENST00000357654.9:c.3751_3754delTGTC	ENST00000357654.9:p.Ser1253ArgfsTer10
	ENST00000644379.2:c.3751_3754delTGTC	ENST00000644379.2:p.Ser1253ArgfsTer10
	ENST00000713676.1:c.3751_3754delTGTC	ENST00000713676.1:p.Ser1253ArgfsTer10
	ENST00000618469.2:c.3751_3754delTGTC	ENST00000618469.2:p.Ser1253ArgfsTer10
	ENST00000586385.5:c.5-27829_5-27826delTGTC
	ENST00000491747.6:c.788-748_788-745delTGTC
	ENST00000470026.6:c.3751_3754delTGTC	ENST00000470026.6:p.Ser1253ArgfsTer10
	ENST00000634433.2:c.3628_3631delTGTC	ENST00000634433.2:p.Ser1212ArgfsTer10
	ENST00000591849.5:c.-99+33494_-99+33491delTGTC
	ENST00000489037.2:c.3673_3676delTGTC	ENST00000489037.2:p.Ser1227ArgfsTer10
	ENST00000700182.1:c.707-748_707-745delTGTC
	ENST00000476777.6:c.3748_3751delTGTC	ENST00000476777.6:p.Ser1252ArgfsTer10

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: chr17:41,243,794-41,243,797
Variant Type: snv
Reference Allele: GACA
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): 121388
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4714139783174613E-5

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