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rs80357952

From SNPedia

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


Make rs80357952(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093705
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357952
ebirs80357952
HLIrs80357952
Exacrs80357952
Varsomers80357952
Maprs80357952
PheGenIrs80357952
hapmaprs80357952
1000 genomesrs80357952
hgdprs80357952
ensemblrs80357952
gopubmedrs80357952
geneviewrs80357952
scholarrs80357952
googlers80357952
pharmgkbrs80357952
gwascentralrs80357952
openSNPrs80357952
23andMers80357952
23andMe allrs80357952
SNP Nexus

SNPshotrs80357952
SNPdbers80357952
MSV3drs80357952
GWAS Ctlgrs80357952
Max Magnitude6
rs80357952, also known as 1942del4, c.1823_1826delAGAA and p.Lys608_Asn609?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357952(;)
Alt rs80357952(;)
Reference rs80357952(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,