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rs80357701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AGCA) 6 BRCA1 variant considered pathogenic for breast cancer
(CAAG;CAAG) 0 common in clinvar
Make rs80357701(-;-)
Make rs80357701(AGCA;AGCA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092199
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357701
ebirs80357701
HLIrs80357701
Exacrs80357701
Varsomers80357701
Maprs80357701
PheGenIrs80357701
hapmaprs80357701
1000 genomesrs80357701
hgdprs80357701
ensemblrs80357701
gopubmedrs80357701
geneviewrs80357701
scholarrs80357701
googlers80357701
pharmgkbrs80357701
gwascentralrs80357701
openSNPrs80357701
23andMers80357701
23andMe allrs80357701
SNP Nexus

SNPshotrs80357701
SNPdbers80357701
MSV3drs80357701
GWAS Ctlgrs80357701
Max Magnitude6
rs80357701, also known as 3448del4, c.3329_3332delAGCA and p.Lys1110_Gln1111?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357701(;)
Alt rs80357701(;)
Reference rs80357701(CAAG;CAAG)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244214_41244217delCTTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031104.9, RCV000048151.5, RCV000131812.2, RCV000195363.2,