All transcript variants in 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.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. - c.8A>C - - p.(Tyr3Ser) g.88008423A>C g.88753422A>C - - CPXCR1_000007 - - - - Germline - - - - - Yu Sun
?/. - c.8A>C - - p.(Tyr3Ser) g.88008423A>C g.88753422A>C - - CPXCR1_000007 - - - - Germline - - - - - Yu Sun
-?/. - c.230A>G likely benign r.(?) p.(Gln77Arg) g.88008645A>G - CPXCR1(NM_033048.5):c.230A>G (p.Q77R) - CPXCR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.305C>A likely benign r.(?) p.(Ser102Tyr) g.88008720C>A - CPXCR1(NM_001184771.1):c.305C>A (p.(Ser102Tyr)) - CPXCR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.392G>A - - p.(Arg131His) g.88008807G>A g.88753806G>A - - CPXCR1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.392G>A - - p.(Arg131His) g.88008807G>A g.88753806G>A - - CPXCR1_000001 - - - - Germline - - - - - Yu Sun
?/. 3 c.392G>A - r.(?) p.(Arg131His) g.88008807G>A - R131H - CPXCR1_000001 recurrent, found 82 times PubMed: Tarpey 2009 - - Germline - 82/208 cases - 0 - Lucy Raymond
?/. - c.466C>A VUS r.(?) p.(Leu156Ile) g.88008881C>A - CPXCR1(NM_033048.5):c.466C>A (p.L156I) - CPXCR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 c.532A>T - r.(?) p.(Ile178Leu) g.88008947A>T - I178L - CPXCR1_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.610T>A VUS r.(?) p.(Tyr204Asn) g.88009025T>A - CPXCR1(NM_033048.5):c.610T>A (p.Y204N) - CPXCR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 c.755G>C - r.(?) p.(Gly252Ala) g.88009170G>C - G252A - CPXCR1_000010 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - 0 - Lucy Raymond
?/. 3 c.773C>T - r.(?) p.(Thr258Ile) g.88009188C>T - T258I - CPXCR1_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.*1A>G - - p.(=) g.88009322A>G g.88754321A>G - - CPXCR1_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*1A>G - - p.(=) g.88009322A>G g.88754321A>G - - CPXCR1_000004 - - - - Germline - - - - - Yu Sun
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