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rs80357862

From SNPedia

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


Make rs80357862(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067649
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357862
ebirs80357862
HLIrs80357862
Exacrs80357862
Varsomers80357862
Maprs80357862
PheGenIrs80357862
hapmaprs80357862
1000 genomesrs80357862
hgdprs80357862
ensemblrs80357862
gopubmedrs80357862
geneviewrs80357862
scholarrs80357862
googlers80357862
pharmgkbrs80357862
gwascentralrs80357862
openSNPrs80357862
23andMers80357862
23andMe allrs80357862
SNP Nexus

SNPshotrs80357862
SNPdbers80357862
MSV3drs80357862
GWAS Ctlgrs80357862
Max Magnitude6
rs80357862, also known as 5149del4, c.5030_5033delCTAA and p.Thr1677_Asn1678?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357862(;)
Alt rs80357862(;)
Reference rs80357862(CTAA;CTAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41219666_41219669delTTAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031204.7, RCV000048741.4, RCV000162882.1, RCV000236835.1,