Unique variants in the BRIP1 gene

Information The variants shown are described using the NM_032043.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
?/? 1 3 c.139C>A r.(?) p.(Pro47Thr) g.59937223G>T - BRIP1_000003 - Florian Bayersdorfer
./+? 1 3 c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C - BRIP1_000001 - Florian Bayersdorfer
?/? 1 4 c.293A>G r.(?) p.(Asn98Ser) g.59934505T>C - BRIP1_000004 - Florian Bayersdorfer
+/+ 1 5 c.403del r.(?) p.(Ala135Leufs*22) g.59926594del - BRIP1_000002 - Florian Bayersdorfer
?/? 1 7 c.869G>T r.(?) p.(Gly290Val) g.59885877C>A - BRIP1_000010 - Florian Bayersdorfer
?/? 1 9 c.1255C>T r.(?) p.(Arg419Trp) g.59876546G>A - BRIP1_000009 - Florian Bayersdorfer
?/? 1 11 c.1477C>G r.(?) p.(His493Asp) g.59861782G>C - BRIP1_000008 - Florian Bayersdorfer
?/? 1 12 c.1634C>T r.(?) p.(Ala545Val) g.59858361G>A - BRIP1_000007 - Florian Bayersdorfer
?/? 1 15 c.2120G>A r.(?) p.(Arg707His) g.59821930C>T - BRIP1_000005 - Florian Bayersdorfer
?/? 1 20 c.3103C>T r.(?) p.(Arg1035Cys) g.59761304G>A - BRIP1_000006 - Florian Bayersdorfer
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