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rs80357844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 Normal


Make rs80357844(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094602
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357844
ebirs80357844
HLIrs80357844
Exacrs80357844
Varsomers80357844
Maprs80357844
PheGenIrs80357844
hapmaprs80357844
1000 genomesrs80357844
hgdprs80357844
ensemblrs80357844
gopubmedrs80357844
geneviewrs80357844
scholarrs80357844
googlers80357844
pharmgkbrs80357844
gwascentralrs80357844
openSNPrs80357844
23andMers80357844
23andMe allrs80357844
SNP Nexus

SNPshotrs80357844
SNPdbers80357844
MSV3drs80357844
GWAS Ctlgrs80357844
Max Magnitude6
rs80357844, also known as 1048delA, c.929_929delA and p.Gln310Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357844(;)
Alt rs80357844(;)
Reference rs80357844(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41246619delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031289.5, RCV000049194.2, RCV000131986.2, RCV000235314.1,