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rs80357888

From SNPedia

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


Make rs80357888(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094023
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357888
ebirs80357888
HLIrs80357888
Exacrs80357888
Varsomers80357888
Maprs80357888
PheGenIrs80357888
hapmaprs80357888
1000 genomesrs80357888
hgdprs80357888
ensemblrs80357888
gopubmedrs80357888
geneviewrs80357888
scholarrs80357888
googlers80357888
pharmgkbrs80357888
gwascentralrs80357888
openSNPrs80357888
23andMers80357888
23andMe allrs80357888
SNP Nexus

SNPshotrs80357888
SNPdbers80357888
MSV3drs80357888
GWAS Ctlgrs80357888
Max Magnitude6
rs80357888, also known as 1623del5, c.1504_1508delTTAAA and p.Leu502_Lys503?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357888(;)
Alt rs80357888(;)
Reference rs80357888(TTAAA;TTAAA)
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.41246040_41246044delTTTAA
CLNSRC Breast Cancer Information Core (BRCA1) L.L.C.
CLNACC RCV000030998.7, RCV000047499.5, RCV000131841.2, RCV000210987.1,