View transcript #00000016

Transcript name transcript variant 1
Gene name BARD1 (BRCA1 associated RING domain 1)
Chromosome 2
Transcript - NCBI ID NM_000465.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000456.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?)
-/-? 1 c.70C>T p.(Pro24Ser) Hetero no r.(?)
?/? 1 c.119C>T p.(Ala40Val) Hetero no r.(?)
-/-? 4 c.1053G>C p.(=) Hetero no r.(=)
-/-? 4 c.1134G>C p.(Arg378Ser) Homo no r.(?)
-/-? 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?)
-/- 4i c.1315-19G>A p.(=) Hetero no r.(=)
+/+ 5 c.1339C>G p.(Leu447Val) Hetero N/A r.(?)
-/-? 6 c.1518T>C p.(=) Homo no r.(=)
-/- 6 c.1518_1519invTG p.(Val507Met) Homo no r.(?)
-/-? 6 c.1519G>A p.(Val507Met) Hetero no r.(?)
?/? 7 c.1585C>T p.(Arg529Trp) Hetero no r.(?)
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