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rs80357580

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TAAC) 6 BRCA1 variant considered pathogenic for breast cancer
(CTAA;CTAA) 0 common in clinvar
Make rs80357580(-;-)
Make rs80357580(TAAC;TAAC)
ReferenceGRCh38 38.1/142
Chromosome17
Position43067652
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357580
ebirs80357580
HLIrs80357580
Exacrs80357580
Varsomers80357580
Maprs80357580
PheGenIrs80357580
hapmaprs80357580
1000 genomesrs80357580
hgdprs80357580
ensemblrs80357580
gopubmedrs80357580
geneviewrs80357580
scholarrs80357580
googlers80357580
pharmgkbrs80357580
gwascentralrs80357580
openSNPrs80357580
23andMers80357580
23andMe allrs80357580
SNP Nexus

SNPshotrs80357580
SNPdbers80357580
MSV3drs80357580
GWAS Ctlgrs80357580
Max Magnitude6
rs80357580, also known as 5146del4, c.5027_5030delTAAC and p.Leu1676_Thr1677?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357580(;)
Alt rs80357580(;)
Reference rs80357580(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,