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rs80357585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAAG) 6 BRCA1 variant considered pathogenic for breast cancer
(AGAA;AGAA) 0 common in clinvar
Make rs80357585(-;-)
Make rs80357585(AAAG;AAAG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093707
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357585
ebirs80357585
HLIrs80357585
Exacrs80357585
Varsomers80357585
Maprs80357585
PheGenIrs80357585
hapmaprs80357585
1000 genomesrs80357585
hgdprs80357585
ensemblrs80357585
gopubmedrs80357585
geneviewrs80357585
scholarrs80357585
googlers80357585
pharmgkbrs80357585
gwascentralrs80357585
openSNPrs80357585
23andMers80357585
23andMe allrs80357585
SNP Nexus

SNPshotrs80357585
SNPdbers80357585
MSV3drs80357585
GWAS Ctlgrs80357585
Max Magnitude6
rs80357585, also known as 1940del4, c.1821_1824delAAAG and p.Lys607_Lys608?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357585(;)
Alt rs80357585(;)
Reference rs80357585(AGAA;AGAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245722_41245725delTTCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047598.2, RCV000111693.4, RCV000131901.2,