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rs80357777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAGC) 6 BRCA1 variant considered pathogenic for breast cancer
(CAAG;CAAG) 0 common in clinvar
Make rs80357777(-;-)
Make rs80357777(AAGC;AAGC)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092200
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357777
ebirs80357777
HLIrs80357777
Exacrs80357777
Varsomers80357777
Maprs80357777
PheGenIrs80357777
hapmaprs80357777
1000 genomesrs80357777
hgdprs80357777
ensemblrs80357777
gopubmedrs80357777
geneviewrs80357777
scholarrs80357777
googlers80357777
pharmgkbrs80357777
gwascentralrs80357777
openSNPrs80357777
23andMers80357777
23andMe allrs80357777
SNP Nexus

SNPshotrs80357777
SNPdbers80357777
MSV3drs80357777
GWAS Ctlgrs80357777
Max Magnitude6
rs80357777, also known as 3447del4, c.3328_3331delAAGC and p.Lys1110_Gln1111?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357777(;)
Alt rs80357777(;)
Reference rs80357777(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,