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rs80357620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357620(-;-)
Make rs80357620(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43076508
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357620
ebirs80357620
HLIrs80357620
Exacrs80357620
Varsomers80357620
Maprs80357620
PheGenIrs80357620
hapmaprs80357620
1000 genomesrs80357620
hgdprs80357620
ensemblrs80357620
gopubmedrs80357620
geneviewrs80357620
scholarrs80357620
googlers80357620
pharmgkbrs80357620
gwascentralrs80357620
openSNPrs80357620
23andMers80357620
23andMe allrs80357620
SNP Nexus

SNPshotrs80357620
SNPdbers80357620
MSV3drs80357620
GWAS Ctlgrs80357620
Max Magnitude6
rs80357620, also known as 4582insA, c.4463_4464insA and p.Asn1488?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357620(A;A)
Alt rs80357620(A;A)
Reference rs80357620(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41228526dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112336.1,