Full data view for gene IGBP1

Information The variants shown are described using the NM_001551.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
Legend  

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.-18G>C r.(=) p.(=) g.69353780G>C Copied from the Exome Variant Server IGBP1_000001 114/10563 0/6728 114/3835 - - - - - - -
?/? c.-4C>T r.(=) p.(=) g.69353794C>T Copied from the Exome Variant Server IGBP1_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.15C>T r.(=) p.(=) g.69353812C>T Copied from the Exome Variant Server IGBP1_000003 12/10563 0/6728 12/3835 - - - - - - -
?/? c.59G>A r.(?) p.(Arg20Lys) g.69353856G>A Copied from the Exome Variant Server IGBP1_000004 540/10563 1/6728 539/3835 - - - - - - -
?/? c.99C>T r.(=) p.(=) g.69353896C>T Copied from the Exome Variant Server IGBP1_000005 56/10563 0/6728 56/3835 - - - - - - -
?/? c.189-35A>G r.(=) p.(=) g.69354338A>G Copied from the Exome Variant Server IGBP1_000006 29/10562 0/6727 29/3835 - - - - - - -
?/? c.189-25C>T r.(=) p.(=) g.69354348C>T Copied from the Exome Variant Server IGBP1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.281A>G r.(?) p.(Asn94Ser) g.69354465A>G Copied from the Exome Variant Server IGBP1_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.297A>G r.(=) p.(=) g.69354481A>G Copied from the Exome Variant Server IGBP1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.309G>T r.(?) p.(Gln103His) g.69354493G>T Copied from the Exome Variant Server IGBP1_000010 4/10563 0/6728 4/3835 - - - - - - -
?/? c.315T>C r.(=) p.(=) g.69354499T>C Copied from the Exome Variant Server IGBP1_000011 2/10563 2/6728 0/3835 - - - - - - -
?/? c.317G>A r.(?) p.(Arg106Gln) g.69354501G>A Copied from the Exome Variant Server IGBP1_000012 18/10563 17/6728 1/3835 - - - - - - -
?/? c.323A>G r.(?) p.(His108Arg) g.69354507A>G Copied from the Exome Variant Server IGBP1_000013 4/10563 0/6728 4/3835 - - - - - - -
?/? c.410A>T r.(?) p.(His137Leu) g.69354594A>T Copied from the Exome Variant Server IGBP1_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.422C>T r.(?) p.(Ser141Phe) g.69354606C>T Copied from the Exome Variant Server IGBP1_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.536T>C r.(?) p.(Val179Ala) g.69366536T>C Copied from the Exome Variant Server IGBP1_000016 3/10563 3/6728 0/3835 - - - - - - -
?/? c.567T>C r.(=) p.(=) g.69366567T>C Copied from the Exome Variant Server IGBP1_000017 1/10559 1/6724 0/3835 - - - - - - -
?/? c.576T>C r.(=) p.(=) g.69366576T>C Copied from the Exome Variant Server IGBP1_000018 2/10559 2/6724 0/3835 - - - - - - -
?/? c.597G>A r.(=) p.(=) g.69366597G>A Copied from the Exome Variant Server IGBP1_000019 17/10563 17/6728 0/3835 - - - - - - -
?/? c.608T>C r.(?) p.(Ile203Thr) g.69366608T>C Copied from the Exome Variant Server IGBP1_000020 48/10563 44/6728 4/3835 - - - - - - -
?/? c.679-20A>G r.(=) p.(=) g.69368591A>G Copied from the Exome Variant Server IGBP1_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.702C>T r.(=) p.(=) g.69368634C>T Copied from the Exome Variant Server IGBP1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.704A>G r.(?) p.(Gln235Arg) g.69368636A>G Copied from the Exome Variant Server IGBP1_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.718G>C r.(?) p.(Val240Leu) g.69368650G>C Copied from the Exome Variant Server IGBP1_000024 2/10563 2/6728 0/3835 - - - - - - -
?/? c.759-44del r.(=) p.(=) g.69370016del Copied from the Exome Variant Server IGBP1_000025 88/10186 12/6473 76/3713 - - - - - - -
?/? c.759-13G>A r.(=) p.(=) g.69370047G>A Copied from the Exome Variant Server IGBP1_000026 2/10563 2/6728 0/3835 - - - - - - -
?/? c.790A>G r.(?) p.(Thr264Ala) g.69370091A>G Copied from the Exome Variant Server IGBP1_000027 2/10563 2/6728 0/3835 - - - - - - -
?/? c.798G>A r.(=) p.(=) g.69370099G>A Copied from the Exome Variant Server IGBP1_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.823C>T r.(?) p.(Arg275Trp) g.69370124C>T Copied from the Exome Variant Server IGBP1_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.824G>A r.(?) p.(Arg275Gln) g.69370125G>A Copied from the Exome Variant Server IGBP1_000030 6/10563 0/6728 6/3835 - - - - - - -
?/? c.842C>T r.(?) p.(Pro281Leu) g.69370143C>T Copied from the Exome Variant Server IGBP1_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.871+8G>A r.(=) p.(=) g.69370180G>A Copied from the Exome Variant Server IGBP1_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.872-49T>C r.(=) p.(=) g.69385634T>C Copied from the Exome Variant Server IGBP1_000033 1/10548 0/6718 1/3830 - - - - - - -
?/? c.897A>G r.(=) p.(=) g.69385708A>G Copied from the Exome Variant Server IGBP1_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.907C>G r.(?) p.(Gln303Glu) g.69385718C>G Copied from the Exome Variant Server IGBP1_000035 3/10563 0/6728 3/3835 - - - - - - -
?/? c.908_910del r.(?) p.(Glu305del) g.69385719_69385721del Copied from the Exome Variant Server IGBP1_000036 35/10205 17/6484 18/3721 - - - - - - -
?/? c.956G>A r.(?) p.(Arg319Gln) g.69385767G>A Copied from the Exome Variant Server IGBP1_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.997G>A r.(?) p.(Gly333Arg) g.69385808G>A Copied from the Exome Variant Server IGBP1_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1012A>G r.(?) p.(Met338Val) g.69385823A>G Copied from the Exome Variant Server IGBP1_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1017C>T r.(=) p.(=) g.69385828C>T Copied from the Exome Variant Server IGBP1_000040 1/10563 1/6728 0/3835 - - - - - - -
Legend