Full data view for gene CENPI

Information The variants shown are described using the NM_006733.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.33G>A r.(?) p.(Gln11=) Unknown - likely benign g.100356092G>A - CENPI(NM_006733.3):c.33G>A (p.Q11=) - TMEM35_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167A>G r.(?) p.(His56Arg) Parent #1 - VUS g.100356226A>G g.101101237A>G - - CENPI_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.176A>G r.(?) p.(Asp59Gly) Unknown - likely benign g.100356235A>G g.101101246A>G CENPI(NM_006733.3):c.176A>G (p.D59G) - TMEM35_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226+231C>T r.(=) p.(=) Maternal (inferred) - VUS g.100356516C>T g.101101527C>T - - CENPI_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.226+231C>T r.(=) p.(=) Maternal (inferred) - VUS g.100356516C>T g.101101527C>T - - CENPI_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.364+85_364+86dup r.(=) p.(=) Unknown - VUS g.100357485_100357486dup g.101102496_101102497dup - - CENPI_000002 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.365G>C r.(?) p.(Gly122Ala) Unknown - VUS g.100364462G>C - CENPI(NM_006733.3):c.365G>C (p.G122A) - CENPI_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497G>A r.(?) p.(Arg166His) Unknown - likely benign g.100364893G>A g.101109904G>A CENPI(NM_006733.2):c.497G>A (p.(Arg166His)) - CENPI_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.777+145dup r.(=) p.(=) Maternal (inferred) - VUS g.100381932dup g.101126943dup - - CENPI_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.777+145dup r.(=) p.(=) Maternal (inferred) - VUS g.100381932dup g.101126943dup - - CENPI_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.777+145dup r.(=) p.(=) Unknown - VUS g.100381932dup g.101126943dup - - CENPI_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.777+145dup r.(=) p.(=) Unknown - VUS g.100381932dup g.101126943dup - - CENPI_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.826G>A r.(?) p.(Val276Met) Unknown - VUS g.100382175G>A g.101127186G>A CENPI(NM_006733.2):c.826G>A (p.(Val276Met)) - CENPI_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.841C>T r.(?) p.(Arg281Trp) Unknown - VUS g.100382190C>T g.101127201C>T CENPI(NM_006733.3):c.841C>T (p.R281W) - CENPI_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.851C>G r.(?) p.(Ser284Cys) Unknown - likely benign g.100382200C>G g.101127211C>G CENPI(NM_006733.3):c.851C>G (p.S284C) - CENPI_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1075-324A>G r.(=) p.(=) Maternal (inferred) - VUS g.100383381A>G g.101128392A>G - - CENPI_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1075-324A>G r.(=) p.(=) Maternal (inferred) - VUS g.100383381A>G g.101128392A>G - - CENPI_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1075-89G>A r.(=) p.(=) Maternal (inferred) - VUS g.100383616G>A g.101128627G>A - - CENPI_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1075-89G>A r.(=) p.(=) Maternal (inferred) - VUS g.100383616G>A g.101128627G>A - - CENPI_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1093T>C r.(?) p.(Ser365Pro) Unknown - VUS g.100383723T>C g.101128734T>C CENPI(NM_006733.3):c.1093T>C (p.S365P) - CENPI_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1195+15A>C r.(=) p.(=) Maternal (inferred) - VUS g.100383840A>C g.101128851A>C - - CENPI_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1195+15A>C r.(=) p.(=) Maternal (inferred) - VUS g.100383840A>C g.101128851A>C - - CENPI_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1325G>T r.(?) p.(Ser442Ile) Unknown - VUS g.100387216G>T g.101132227G>T CENPI(NM_006733.3):c.1325G>T (p.S442I) - CENPI_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1471-108T>G r.(=) p.(=) Maternal (inferred) - VUS g.100395547T>G g.101140558T>G - - CENPI_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1471-108T>G r.(=) p.(=) Maternal (inferred) - VUS g.100395547T>G g.101140558T>G - - CENPI_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1479G>T r.(=) p.(=) Parent #1 - likely benign g.100395663G>T g.101140674G>T V493V - CENPI_000036 recurrent, found 51 times PubMed: Tarpey 2009 - - Germline - 51/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 51 Lucy Raymond
?/. - c.1485G>A r.(?) p.(=) Maternal (inferred) - VUS g.100395669G>A g.101140680G>A - - CENPI_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1485G>A r.(?) p.(=) Maternal (inferred) - VUS g.100395669G>A g.101140680G>A - - CENPI_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1509T>C r.(?) p.(Asn503=) Unknown - likely benign g.100395693T>C - CENPI(NM_006733.3):c.1509T>C (p.N503=) - CENPI_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1566-30A>G r.(=) p.(=) Maternal (inferred) - VUS g.100400023A>G g.101145034A>G - - CENPI_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1566-30A>G r.(=) p.(=) Maternal (inferred) - VUS g.100400023A>G g.101145034A>G - - CENPI_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1642A>C r.(?) p.(Met548Leu) Unknown - likely benign g.100400129A>C g.101145140A>C CENPI(NM_006733.3):c.1642A>C (p.M548L) - CENPI_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1667T>C r.(?) p.(Phe556Ser) Unknown - likely benign g.100400154T>C g.101145165T>C CENPI(NM_006733.2):c.1667T>C (p.(Phe556Ser)) - CENPI_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1667T>C r.(?) p.(Phe556Ser) Parent #1 - VUS g.100400154T>C g.101145165T>C - - CENPI_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1674G>A r.(=) p.(=) Parent #1 - likely benign g.100400161G>A g.101145172G>A L558L - CENPI_000037 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1701+360G>A r.(=) p.(=) Maternal (inferred) - VUS g.100400548G>A g.101145559G>A - - CENPI_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1702-138A>T r.(=) p.(=) Maternal (inferred) - VUS g.100401004A>T g.101146015A>T - - CENPI_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1702-138A>T r.(=) p.(=) Maternal (inferred) - VUS g.100401004A>T g.101146015A>T - - CENPI_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1757G>C r.(?) p.(Gly586Ala) Unknown - likely benign g.100401197G>C - CENPI(NM_006733.3):c.1757G>C (p.G586A) - CENPI_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1832G>A r.(?) p.(Arg611His) Unknown - VUS g.100402757G>A g.101147768G>A CENPI(NM_006733.2):c.1832G>A (p.(Arg611His)) - CENPI_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2042A>G r.(?) p.(Asn681Ser) Unknown - likely benign g.100403098A>G g.101148109A>G CENPI(NM_006733.2):c.2042A>G (p.(Asn681Ser)), CENPI(NM_006733.3):c.2042A>G (p.N681S) - CENPI_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2042A>G r.(?) p.(Asn681Ser) Unknown - likely benign g.100403098A>G - CENPI(NM_006733.2):c.2042A>G (p.(Asn681Ser)), CENPI(NM_006733.3):c.2042A>G (p.N681S) - CENPI_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2136+199A>G r.(=) p.(=) Maternal (inferred) - VUS g.100416757A>G g.101161768A>G - - CENPI_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2136+199A>G r.(=) p.(=) Maternal (inferred) - VUS g.100416757A>G g.101161768A>G - - CENPI_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend   How to query