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rs80357561

From SNPedia

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


Make rs80357561(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074348
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357561
ebirs80357561
HLIrs80357561
Exacrs80357561
Varsomers80357561
Maprs80357561
PheGenIrs80357561
hapmaprs80357561
1000 genomesrs80357561
hgdprs80357561
ensemblrs80357561
gopubmedrs80357561
geneviewrs80357561
scholarrs80357561
googlers80357561
pharmgkbrs80357561
gwascentralrs80357561
openSNPrs80357561
23andMers80357561
23andMe allrs80357561
SNP Nexus

SNPshotrs80357561
SNPdbers80357561
MSV3drs80357561
GWAS Ctlgrs80357561
Max Magnitude6
rs80357561, also known as 4774del4, c.4655_4658delACTT and p.Tyr1552_Leu1553?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357561(;)
Alt rs80357561(;)
Reference rs80357561(ACTT;ACTT)
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.41226365_41226368delAAGT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000074597.4, RCV000077581.3, RCV000131826.2,