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

527 entries on 6 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.-19-23T>C r.(=) p.(=)
./. - c.-19-23T>C r.(=) p.(=)
./. - c.1A>G r.? p.?
./. - c.66_67del r.(?) p.(Glu23Valfs*17)
./. - c.68_69del r.(?) p.(Glu23Valfs*17)
./. - c.75C>A r.(=) p.(=)
./. - c.81-14C>T r.(=) p.(=)
./. - c.135-50C>G r.(=) p.(=)
./. - c.135-40A>T r.(=) p.(=)
./. - c.135-23C>A r.(=) p.(=)
./. - 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.212+15A>G 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.302-1G>C r.spl? p.?
./. - c.329_330insA r.(?) p.(Glu111Glyfs*3)
./. - c.329_330insA r.(?) p.(Glu111Glyfs*3)
./. - 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.(=)
./. - 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.442-8C>G r.(=) p.(=)
./. - c.457A>G r.(?) p.(Ser153Gly)
./. - c.528G>A r.(=) p.(=)
./. - c.536A>G r.(?) p.(Tyr179Cys)
./. - c.536A>G r.(?) p.(Tyr179Cys)
./. - c.536A>G r.(?) p.(Tyr179Cys)
./. - c.536A>G r.(?) p.(Tyr179Cys)
./. - c.536A>G r.(?) p.(Tyr179Cys)
./. - c.536A>G r.(?) p.(Tyr179Cys)
./. - c.536A>G r.(?) p.(Tyr179Cys)
./. - c.547+14del r.(=) p.(=)
./. - c.547+14del r.(=) p.(=)
./. - c.547+14del r.(=) p.(=)
./. - c.548-37C>A r.(=) p.(=)
./. - c.548-34T>C r.(=) p.(=)
./. - c.548-17G>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.591C>T r.(=) p.(=)
./. - c.594-34T>C r.(=) p.(=)
./. - c.594-34T>C r.(=) p.(=)
./. - c.671-49T>G r.(=) p.(=)
./. - c.671-12G>T r.(=) p.(=)
./. - c.736T>G r.(?) p.(Leu246Val)
./. - c.736T>G r.(?) p.(Leu246Val)
./. - c.736T>G r.(?) p.(Leu246Val)
./. - c.765G>A r.(=) p.(=)
./. - c.787+140A>G r.(=) p.(=)
./. - c.787+140A>G r.(=) p.(=)
./. - c.787+194A>G r.(=) p.(=)
./. - c.787+228A>G r.(=) p.(=)
./. - c.787+229_787+230insA r.(=) p.(=)
./. - c.787+278G>A r.(=) p.(=)
./. - c.787+278G>A r.(=) p.(=)
./. - c.787+278G>A r.(=) p.(=)
./. - c.787+278G>A r.(=) p.(=)
./. - c.787+278G>A r.(=) p.(=)
./. - c.787+278G>A r.(=) p.(=)
./. - c.787+278G>A r.(=) p.(=)
./. - c.787+455C>T r.(=) p.(=)
./. - c.787+463A>G r.(=) p.(=)
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