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rs80357975

From SNPedia

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


Make rs80357975(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063346
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357975
ebirs80357975
HLIrs80357975
Exacrs80357975
Varsomers80357975
Maprs80357975
PheGenIrs80357975
hapmaprs80357975
1000 genomesrs80357975
hgdprs80357975
ensemblrs80357975
gopubmedrs80357975
geneviewrs80357975
scholarrs80357975
googlers80357975
pharmgkbrs80357975
gwascentralrs80357975
openSNPrs80357975
23andMers80357975
23andMe allrs80357975
SNP Nexus

SNPshotrs80357975
SNPdbers80357975
MSV3drs80357975
GWAS Ctlgrs80357975
Max Magnitude6
rs80357975, also known as 5296del4, c.5177_5180delGAAA and p.Arg1726_Lys1727?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357975(;)
Alt rs80357975(;)
Reference rs80357975(GAAA;GAAA)
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.41215363_41215366delTTTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031225.6, RCV000048843.5, RCV000131829.2, RCV000167855.4,