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rs386134270

From SNPedia

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


Make rs386134270(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092695
GeneBRCA1
is asnp
is mentioned by
dbSNPrs386134270
ebirs386134270
HLIrs386134270
Exacrs386134270
Varsomers386134270
Maprs386134270
PheGenIrs386134270
hapmaprs386134270
1000 genomesrs386134270
hgdprs386134270
ensemblrs386134270
gopubmedrs386134270
geneviewrs386134270
scholarrs386134270
googlers386134270
pharmgkbrs386134270
gwascentralrs386134270
openSNPrs386134270
23andMers386134270
23andMe allrs386134270
SNP Nexus

SNPshotrs386134270
SNPdbers386134270
MSV3drs386134270
GWAS Ctlgrs386134270
Max Magnitude6
rs386134270, also known as 2953delGTAinsC, c.2834_2836delGTAinsC and p.Ser945_Ile946ThrGlnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs386134270(C;C)
Alt rs386134270(C;C)
Reference rs386134270(GTA;GTA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244712_41244714delTACinsG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077529.6, RCV000200323.2,