Full data view for gene SNCB

Information The variants shown are described using the NM_001001502.1 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-9-40C>T r.(=) p.(=) g.176056704G>A Copied from the Exome Variant Server SNCB_000043 1/13000 1/8596 0/4404 - - - - - - -
?/? c.-9-6C>T r.(=) p.(=) g.176056670G>A Copied from the Exome Variant Server SNCB_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.42C>T r.(=) p.(=) g.176056614G>A Copied from the Exome Variant Server SNCB_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90G>A r.(=) p.(=) g.176056566C>T Copied from the Exome Variant Server SNCB_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.92A>C r.(?) p.(Glu31Ala) g.176056564T>G Copied from the Exome Variant Server SNCB_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.117C>T r.(=) p.(=) g.176056539G>A Copied from the Exome Variant Server SNCB_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.121+6T>C r.(=) p.(=) g.176056529A>G Copied from the Exome Variant Server SNCB_000037 12622/13006 8599/8600 4023/4406 - - - - - - -
?/? c.121+13C>T r.(=) p.(=) g.176056522G>A Copied from the Exome Variant Server SNCB_000036 1/13002 0/8600 1/4402 - - - - - - -
?/? c.121+23G>A r.(=) p.(=) g.176056512C>T Copied from the Exome Variant Server SNCB_000035 1/12998 1/8598 0/4400 - - - - - - -
?/? c.122-53T>C r.(=) p.(=) g.176053815A>G Copied from the Exome Variant Server SNCB_000034 31/4566 31/3182 0/1384 - - - - - - -
?/? c.122-38C>A r.(=) p.(=) g.176053800G>T Copied from the Exome Variant Server SNCB_000033 4/13006 0/8600 4/4406 - - - - - - -
?/? c.122-37G>A r.(=) p.(=) g.176053799C>T Copied from the Exome Variant Server SNCB_000032 4/13006 0/8600 4/4406 - - - - - - -
?/? c.122-33A>G r.(=) p.(=) g.176053795T>C Copied from the Exome Variant Server SNCB_000031 2/13006 0/8600 2/4406 - - - - - - -
?/? c.122-22G>A r.(=) p.(=) g.176053784C>T Copied from the Exome Variant Server SNCB_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.163+42C>T r.(=) p.(=) g.176053679G>A Copied from the Exome Variant Server SNCB_000029 6/13006 6/8600 0/4406 - - - - - - -
?/? c.163+43G>A r.(=) p.(=) g.176053678C>T Copied from the Exome Variant Server SNCB_000028 3/13006 0/8600 3/4406 - - - - - - -
?/? c.163+55C>T r.(=) p.(=) g.176053666G>A Copied from the Exome Variant Server SNCB_000027 1/4566 1/3182 0/1384 - - - - - - -
?/? c.163+76G>C r.(=) p.(=) g.176053645C>G Copied from the Exome Variant Server SNCB_000026 1656/4566 1519/3182 137/1384 - - - - - - -
?/? c.163+80G>C r.(=) p.(=) g.176053641C>G Copied from the Exome Variant Server SNCB_000025 55/4566 1/3182 54/1384 - - - - - - -
?/? c.164-57_164-51del r.(=) p.(=) g.176053568_176053574del Copied from the Exome Variant Server SNCB_000024 2/12504 0/8244 2/4260 - - - - - - -
?/? c.164-20C>T r.(=) p.(=) g.176053537G>A Copied from the Exome Variant Server SNCB_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.229A>G r.(?) p.(Ile77Val) g.176053452T>C Copied from the Exome Variant Server SNCB_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.282+21G>A r.(=) p.(=) g.176053378C>T Copied from the Exome Variant Server SNCB_000021 2/13006 2/8600 0/4406 - - - - - - -
?/? c.283-49G>A r.(=) p.(=) g.176048353C>T Copied from the Exome Variant Server SNCB_000020 57/13004 0/8600 57/4404 - - - - - - -
?/? c.283-24A>T r.(=) p.(=) g.176048328T>A Copied from the Exome Variant Server SNCB_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.283-23G>A r.(=) p.(=) g.176048327C>T Copied from the Exome Variant Server SNCB_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.326A>G r.(?) p.(Glu109Gly) g.176048261T>C Copied from the Exome Variant Server SNCB_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.352A>G r.(?) p.(Ser118Gly) g.176048235T>C Copied from the Exome Variant Server SNCB_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.368C>A r.(?) p.(Pro123His) g.176048219G>T Copied from the Exome Variant Server SNCB_000015 2/13006 2/8600 0/4406 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.176048218G>A Copied from the Exome Variant Server SNCB_000014 2/13006 0/8600 2/4406 - - - - - - -
?/? c.372+9G>A r.(=) p.(=) g.176048206C>T Copied from the Exome Variant Server SNCB_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.372+20G>A r.(=) p.(=) g.176048195C>T Copied from the Exome Variant Server SNCB_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372+22G>T r.(=) p.(=) g.176048193C>A Copied from the Exome Variant Server SNCB_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372+23C>T r.(=) p.(=) g.176048192G>A Copied from the Exome Variant Server SNCB_000010 58/13006 0/8600 58/4406 - - - - - - -
?/? c.372+36A>G r.(=) p.(=) g.176048179T>C Copied from the Exome Variant Server SNCB_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.372+45G>T r.(=) p.(=) g.176048170C>A Copied from the Exome Variant Server SNCB_000008 4/13000 0/8598 4/4402 - - - - - - -
?/? c.372+51T>C r.(=) p.(=) g.176048164A>G Copied from the Exome Variant Server SNCB_000007 9/12996 8/8594 1/4402 - - - - - - -
?/? c.373-6A>G r.(=) p.(=) g.176047850T>C Copied from the Exome Variant Server SNCB_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.378A>T r.(?) p.(Glu126Asp) g.176047839T>A Copied from the Exome Variant Server SNCB_000005 2/13006 2/8600 0/4406 - - - - - - -
?/? c.393G>A r.(=) p.(=) g.176047824C>T Copied from the Exome Variant Server SNCB_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*51C>T r.(=) p.(=) g.176047761G>A Copied from the Exome Variant Server SNCB_000003 670/13004 479/8600 191/4404 - - - - - - -
?/? c.*72_*76del r.(=) p.(=) g.176047736_176047740del Copied from the Exome Variant Server SNCB_000002 38/12514 32/8252 6/4262 - - - - - - -
?/? c.*76T>G r.(=) p.(=) g.176047736A>C Copied from the Exome Variant Server SNCB_000001 3/4566 3/3182 0/1384 - - - - - - -
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