Full data view for gene CT45A5

Information The variants shown are described using the NM_001007551.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.170-12C>T r.(=) p.(=) Maternal (inferred) - VUS g.134948167G>A g.135831457G>A - - CT45A5_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.184C>G r.(?) p.(His62Asp) Parent #1 - VUS g.134948141G>C g.135831431G>C H62D - CT45A5_000020 recurrent, found 16 times PubMed: Tarpey 2009 - - Germline - 16/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 16 Lucy Raymond
-?/. - c.187G>A r.(?) p.(Ala63Thr) Unknown - likely benign g.134948138C>T - CT45A10(NM_001291527.1):c.187G>A (p.A63T) - CT45A5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188C>G r.(?) p.(Ala63Gly) Parent #1 - VUS g.134948137G>C g.135831427G>C MGC88118:188C>G A63G - CT45A5_000019 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 12 Lucy Raymond
-?/. - c.216G>C r.(?) p.(Gln72His) Unknown - likely benign g.134948109C>G g.135831399C>G CT45A10(NM_001291527.1):c.216G>C (p.Q72H) - CT45A5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247G>A r.(?) p.(Gly83Arg) Parent #1 - VUS g.134948078C>T g.135831368C>T MGC88118:247G>A G83R - CT45A5_000018 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
-?/. - c.247G>A r.(?) p.(Gly83Arg) Unknown - likely benign g.134948078C>T g.135831368C>T CT45A5(NM_001007551.3):c.247G>A (p.(Gly83Arg)) - CT45A5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254T>G r.(?) p.(Met85Arg) Parent #1 - VUS g.134948071A>C g.135831361A>C MGC88118:254T>G M85R - CT45A5_000017 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
?/. - c.262C>T r.(?) p.(Pro88Ser) Parent #1 - VUS g.134948063G>A g.135831353G>A MGC88118:262C>T P88S - CT45A5_000016 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
?/. - c.272A>G r.(?) p.(Asn91Ser) Parent #1 - VUS g.134948053T>C g.135831343T>C MGC88118:272A>G N91S - CT45A5_000015 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
?/. - c.290A>T r.(?) p.(Asn97Ile) Parent #1 - VUS g.134948035T>A g.135831325T>A MGC88118:290A>T N97I - CT45A5_000014 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.291T>C r.(?) p.(=) Maternal (inferred) - VUS g.134948034A>G g.135831324= - - CT45A5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.291T>C r.(?) p.(=) Maternal (inferred) - VUS g.134948034A>G g.135831324= - - CT45A5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.291T>C r.(?) p.(=) Parent #1 - VUS g.134948034A>G g.135831324= MGC88118:291T>C N97N - CT45A5_000001 recurrent, found 136 times PubMed: Tarpey 2009 - - Germline - 136/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 136 Lucy Raymond
?/. - c.302A>G r.(?) p.(Asn101Ser) Unknown - VUS g.134948023T>C g.135883124T>C CT45A10(NM_001291527.1):c.302A>G (p.N101S), CT45A5(NM_001007551.3):c.302A>G (p.(Asn101Ser)) - CT45A5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302A>G r.(?) p.(Asn101Ser) Parent #1 - VUS g.134948023T>C g.135883124T>C MGC88118:302A>G N101S - CT45A5_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.302A>G r.(?) p.(Asn101Ser) Unknown - likely benign g.134948023T>C - CT45A10(NM_001291527.1):c.302A>G (p.N101S), CT45A5(NM_001007551.3):c.302A>G (p.(Asn101Ser)) - CT45A5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311G>A r.(?) p.(Gly104Glu) Parent #1 - VUS g.134948014C>T g.135883115C>T MGC88118:311G>A G104E - CT45A5_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.358C>G r.(?) p.(Gln120Glu) Parent #1 - VUS g.134947967G>C g.135883068G>C MGC88118:358C>G Q120E - CT45A5_000012 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 10 Lucy Raymond
?/. - c.359A>G r.(?) p.(Gln120Arg) Parent #1 - VUS g.134947966T>C g.135883067T>C Q120R - CT45A5_000011 recurrent, found 144 times PubMed: Tarpey 2009 - - Germline - 144/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 144 Lucy Raymond
?/. - c.374A>T r.(?) p.(Asp125Val) Parent #1 - VUS g.134947951T>A g.135883052T>A MGC88118:374A>T D125V - CT45A5_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.383G>A r.(?) p.(Cys128Tyr) Unknown - likely benign g.134947942C>T - CT45A10(NM_001291527.1):c.383G>A (p.C128Y) - CT45A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388G>T r.(?) p.(Val130Leu) Parent #1 - VUS g.134947937C>A g.135883038C>A MGC88118:388G>T V130L - CT45A5_000009 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 11 Lucy Raymond
?/. - c.409C>A r.(?) p.(Leu137Ile) Parent #1 - VUS g.134947916G>T g.135883017G>T MGC88118:409C>A L137I - CT45A5_000008 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
?/. - c.416G>A r.(?) p.(Arg139Gln) Parent #1 - VUS g.134947909C>T g.135883010C>T MGC88118:416G>A R139Q - CT45A5_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.418+180T>C r.(=) p.(=) Maternal (inferred) - VUS g.134947727A>G g.135831017A>G - - CT45A5_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.512+8G>A r.(=) p.(=) Unknown - likely benign g.134947427C>T - CT45A9(NM_001291540.2):c.512+8G>A - CT45A5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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