rs387906563

minus

Geno	Mag	Summary
(-;-)	0	common/normal
(-;AGCCATGTGG)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar

Make rs387906563(AGCCATGTGG;AGCCATGTGG)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094706

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs387906563
dbSNP (classic)	rs387906563
ClinGen	rs387906563
ebi	rs387906563
HLI	rs387906563
Exac	rs387906563
Gnomad	rs387906563
Varsome	rs387906563
LitVar	rs387906563
Map	rs387906563
PheGenI	rs387906563
Biobank	rs387906563
1000 genomes	rs387906563
hgdp	rs387906563
ensembl	rs387906563
geneview	rs387906563
scholar	rs387906563
google	rs387906563
pharmgkb	rs387906563
gwascentral	rs387906563
openSNP	rs387906563
23andMe	rs387906563
SNPshot	rs387906563
SNPdbe	rs387906563
MSV3d	rs387906563
GWAS Ctlg	rs387906563

Max Magnitude

6

rs387906563, also known as c.787+28_787+37dup, 943ins10, c.824_825insAGCCATGTGG and p.Thr276Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs387906563(GAGCCATGTGGC;GAGCCATGTGGC) rs387906563(AGCCATGTGGC;AGCCATGTGGC)
Alt	rs387906563(GAGCCATGTGGC;GAGCCATGTGGC) rs387906563(AGCCATGTGGC;AGCCATGTGGC)
Reference	Rs387906563(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast
Variation	info
Gene
CLNDBN	Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41246724_41246733dupCCACATGGCT; NC_000017.10:g.41246724_41246734dupCCACATGGCTC
CLNSRC
CLNACC	RCV000074602.2, RCV000049155.2,