Full data view for gene CPXCR1

Information The variants shown are described using the NM_033048.5 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.8A>C - - p.(Tyr3Ser) Maternal (inferred) g.88008423A>C g.88753422A>C - - CPXCR1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.8A>C - - p.(Tyr3Ser) Maternal (inferred) g.88008423A>C g.88753422A>C - - CPXCR1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.230A>G likely benign r.(?) p.(Gln77Arg) Unknown g.88008645A>G - CPXCR1(NM_033048.5):c.230A>G (p.Q77R) - CPXCR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.305C>A likely benign r.(?) p.(Ser102Tyr) Unknown g.88008720C>A - CPXCR1(NM_001184771.1):c.305C>A (p.(Ser102Tyr)) - CPXCR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.392G>A - - p.(Arg131His) Maternal (inferred) g.88008807G>A g.88753806G>A - - CPXCR1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.392G>A - - p.(Arg131His) Maternal (inferred) g.88008807G>A g.88753806G>A - - CPXCR1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 3 c.392G>A - r.(?) p.(Arg131His) Parent #1 g.88008807G>A - R131H - CPXCR1_000001 recurrent, found 82 times PubMed: Tarpey 2009 - - Germline - 82/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 82 Lucy Raymond
?/. - c.466C>A VUS r.(?) p.(Leu156Ile) Unknown g.88008881C>A - CPXCR1(NM_033048.5):c.466C>A (p.L156I) - CPXCR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.532A>T - r.(?) p.(Ile178Leu) Parent #1 g.88008947A>T - I178L - CPXCR1_000009 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.610T>A VUS r.(?) p.(Tyr204Asn) Unknown g.88009025T>A - CPXCR1(NM_033048.5):c.610T>A (p.Y204N) - CPXCR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.755G>C - r.(?) p.(Gly252Ala) Parent #1 g.88009170G>C - G252A - CPXCR1_000010 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
?/. 3 c.773C>T - r.(?) p.(Thr258Ile) Parent #1 g.88009188C>T - T258I - CPXCR1_000011 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.*1A>G - - p.(=) Maternal (inferred) g.88009322A>G g.88754321A>G - - CPXCR1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1A>G - - p.(=) Maternal (inferred) g.88009322A>G g.88754321A>G - - CPXCR1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend