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rs80357964

From SNPedia

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


Make rs80357964(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094285
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357964
ebirs80357964
HLIrs80357964
Exacrs80357964
Varsomers80357964
Maprs80357964
PheGenIrs80357964
hapmaprs80357964
1000 genomesrs80357964
hgdprs80357964
ensemblrs80357964
gopubmedrs80357964
geneviewrs80357964
scholarrs80357964
googlers80357964
pharmgkbrs80357964
gwascentralrs80357964
openSNPrs80357964
23andMers80357964
23andMe allrs80357964
SNP Nexus

SNPshotrs80357964
SNPdbers80357964
MSV3drs80357964
GWAS Ctlgrs80357964
Max Magnitude6
rs80357964, also known as 1359del7, c.1240_1246delGACGTTC and p.Asp414_Leu416?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357964(;)
Alt rs80357964(;)
Reference rs80357964(GACGTTC;GACGTTC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246302_41246308delGAACGTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047388.2, RCV000111570.1,