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rs80357680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAAAA) 6 BRCA1 variant considered pathogenic for breast cancer
(AAAAA;AAAAA) 0 common in clinvar


Make rs80357680(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092202
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357680
ebirs80357680
HLIrs80357680
Exacrs80357680
Varsomers80357680
Maprs80357680
PheGenIrs80357680
hapmaprs80357680
1000 genomesrs80357680
hgdprs80357680
ensemblrs80357680
gopubmedrs80357680
geneviewrs80357680
scholarrs80357680
googlers80357680
pharmgkbrs80357680
gwascentralrs80357680
openSNPrs80357680
23andMers80357680
23andMe allrs80357680
SNP Nexus

SNPshotrs80357680
SNPdbers80357680
MSV3drs80357680
GWAS Ctlgrs80357680
Max Magnitude6
rs80357680, also known as 3444del5, c.3325_3329delAAAAA and p.Lys1109_Lys1110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357680(;)
Alt rs80357680(;)
Reference rs80357680(AAAAA;AAAAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244219_41244223delTTTTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048143.2, RCV000112061.1,