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rs397507676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTTGAAATTA) 6 BRCA2 variant considered pathogenic for breast cancer
(AGTTGAAATT;AGTTGAAATT) 0 common in clinvar
(GTTGAAATTA;GTTGAAATTA) 0 common in clinvar


Make rs397507676(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337911
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507676
dbSNP (classic)rs397507676
ClinGenrs397507676
ebirs397507676
HLIrs397507676
Exacrs397507676
Gnomadrs397507676
Varsomers397507676
LitVarrs397507676
Maprs397507676
PheGenIrs397507676
Biobankrs397507676
1000 genomesrs397507676
hgdprs397507676
ensemblrs397507676
geneviewrs397507676
scholarrs397507676
googlers397507676
pharmgkbrs397507676
gwascentralrs397507676
openSNPrs397507676
23andMers397507676
SNPshotrs397507676
SNPdbers397507676
MSV3drs397507676
GWAS Ctlgrs397507676
Max Magnitude6

aka c.3556_3565delGTTGAAATTA (p.Val1186fs)

ClinVar
Risk rs397507676(-;-)
Alt rs397507676(-;-)
Reference Rs397507676(AGTTGAAATT;AGTTGAAATT)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32912048_32912057delGTTGAAATTA
CLNSRC ClinVar
CLNACC RCV000044222.2,