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rs397507643

From SNPedia

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


Make rs397507643(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337183
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507643
dbSNP (classic)rs397507643
ClinGenrs397507643
ebirs397507643
HLIrs397507643
Exacrs397507643
Gnomadrs397507643
Varsomers397507643
LitVarrs397507643
Maprs397507643
PheGenIrs397507643
Biobankrs397507643
1000 genomesrs397507643
hgdprs397507643
ensemblrs397507643
geneviewrs397507643
scholarrs397507643
googlers397507643
pharmgkbrs397507643
gwascentralrs397507643
openSNPrs397507643
23andMers397507643
SNPshotrs397507643
SNPdbers397507643
MSV3drs397507643
GWAS Ctlgrs397507643
Max Magnitude6

aka c.2828_2831delTTAA (p.Ile943fs)

ClinVar
Risk rs397507643(-;-)
Alt rs397507643(-;-)
Reference Rs397507643(AATT;AATT)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32911320_32911323delTTAA
CLNSRC ClinVar
CLNACC RCV000044069.2,