Transcript #00000016

Transcript name breast cancer 1, early onset, transcript variant 5
Gene name BRCA1 (BRCA1 DNA repair associated)
Chromosome 17
Transcript - NCBI ID NM_007299.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009230.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

1207 entries on 13 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? - c.-19-27T>G r.(=) p.(=)
?/? - c.-19-27T>G r.(=) p.(=)
?/? - c.-19-27T>G r.(=) p.(=)
?/? - c.-19-23T>C r.(=) p.(=)
?/? - c.-19-23T>C r.(=) p.(=)
?/? - c.-19-23T>C r.(=) p.(=)
+/+ - c.(?) r.(?) p.(?)
+/+ - c.(?) r.(?) p.(?)
+/+ - c.(?) r.(?) p.(?)
+/+ - c.1A>G r.? p.?
+/+ - c.34C>T r.(?) p.(Gln12*)
+/+ - c.65T>A r.(?) p.(Leu22*)
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17)
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17)
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17)
+/+ - c.68_69del r.(?) p.(Glu23Valfs*17)
-?/-? - c.75C>A r.(=) p.(=)
+/+ - c.80+715_81-3350del r.(=) p.(=)
-/- - c.81-14C>T r.(=) p.(=)
?/? - c.135-50C>G r.(=) p.(=)
?/? - c.135-40A>T r.(=) p.(=)
?/? - c.135-40A>T r.(=) p.(=)
?/? - c.135-23C>A r.(=) p.(=)
+/+ - c.150del r.(?) p.(Lys50Asnfs*19)
+/+ - c.150del r.(?) p.(Lys50Asnfs*19)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
./. - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.181T>G r.(?) p.(Cys61Gly)
+/+ - c.190T>C r.(?) p.(Cys64Arg)
-?/-? - c.212+15A>G r.(=) p.(=)
+/+ - c.224_227del r.(?) p.(Glu75Valfs*12)
?/? - c.245T>C r.(?) p.(Leu82Pro)
-/- - c.301+7G>A r.(=) p.(=)
-/- - c.301+7G>A r.(=) p.(=)
-/- - c.301+7G>A r.(=) p.(=)
-/- - c.301+7G>A r.(=) p.(=)
-/- - c.301+7G>A r.(=) p.(=)
?/? - c.302-51C>G r.(=) p.(=)
+/+ - c.302-2A>G r.spl? p.?
+/+ - c.302-2A>G r.spl? p.?
+/+ - c.302-1G>C r.spl? p.?
+/+ - c.329dupA r.(?) p.(Glu111Glyfs*3)
+/+ - c.329dupA r.(?) p.(Glu111Glyfs*3)
+/+ - c.329dupA r.(?) p.(Glu111Glyfs*3)
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
+/+ - c.331del r.(?) p.(Glu111Lysfs*8)
+/+ - c.331del r.(?) p.(Glu111Lysfs*8)
+/+ - c.331del r.(?) p.(Glu111Lysfs*8)
+/+ - c.331del r.(?) p.(Glu111Lysfs*8)
?/? - c.430A>T r.(?) p.(Asn144Tyr)
?/? - c.441+28T>C r.(=) p.(=)
-/- - c.441+33_441+49del r.(=) p.(=)
-/- - c.441+36_441+38del r.(=) p.(=)
-/- - c.441+36_441+38del r.(=) p.(=)
-/- - c.441+36_441+38del r.(=) p.(=)
-/- - c.441+36_441+38del r.(=) p.(=)
-/- - c.441+36_441+38del r.(=) p.(=)
-/- - c.441+36_441+38del r.(=) p.(=)
-/- - c.441+36_441+38del r.(=) p.(=)
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