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rs80357917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AATC) 6 BRCA1 variant considered pathogenic for breast cancer
(TCAA;TCAA) 0 common in clinvar
Make rs80357917(-;-)
Make rs80357917(AATC;AATC)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092803
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357917
ebirs80357917
HLIrs80357917
Exacrs80357917
Varsomers80357917
Maprs80357917
PheGenIrs80357917
hapmaprs80357917
1000 genomesrs80357917
hgdprs80357917
ensemblrs80357917
gopubmedrs80357917
geneviewrs80357917
scholarrs80357917
googlers80357917
pharmgkbrs80357917
gwascentralrs80357917
openSNPrs80357917
23andMers80357917
23andMe allrs80357917
SNP Nexus

SNPshotrs80357917
SNPdbers80357917
MSV3drs80357917
GWAS Ctlgrs80357917
Max Magnitude6
rs80357917, also known as 2844del4, c.2725_2728delAATC and p.Asn909_Gln910?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357917(;)
Alt rs80357917(;)
Reference rs80357917(TCAA;TCAA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244818_41244821delTTGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047948.4, RCV000083188.4, RCV000162859.1,