Unique variants in the CT45A5 gene

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

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.170-12C>T r.(=) p.(=) - VUS g.134948167G>A g.135831457G>A - - CT45A5_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.184C>G r.(?) p.(His62Asp) - VUS g.134948141G>C g.135831431G>C H62D - CT45A5_000020 recurrent, found 16 times PubMed: Tarpey 2009 - - Germline - 16/208 cases - - - Lucy Raymond
-?/. 1 - c.187G>A r.(?) p.(Ala63Thr) - likely benign g.134948138C>T - CT45A10(NM_001291527.1):c.187G>A (p.A63T) - CT45A5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.188C>G r.(?) p.(Ala63Gly) - VUS g.134948137G>C g.135831427G>C MGC88118:188C>G A63G - CT45A5_000019 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - - - Lucy Raymond
-?/. 1 - c.216G>C r.(?) p.(Gln72His) - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.247G>A r.(?) p.(Gly83Arg) - likely benign, VUS g.134948078C>T g.135831368C>T CT45A5(NM_001007551.3):c.247G>A (p.(Gly83Arg)), MGC88118:247G>A G83R - CT45A5_000018 recurrent, found 6 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 6/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.254T>G r.(?) p.(Met85Arg) - VUS g.134948071A>C g.135831361A>C MGC88118:254T>G M85R - CT45A5_000017 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
?/. 1 - c.262C>T r.(?) p.(Pro88Ser) - VUS g.134948063G>A g.135831353G>A MGC88118:262C>T P88S - CT45A5_000016 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - - - Lucy Raymond
?/. 1 - c.272A>G r.(?) p.(Asn91Ser) - VUS g.134948053T>C g.135831343T>C MGC88118:272A>G N91S - CT45A5_000015 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
?/. 1 - c.290A>T r.(?) p.(Asn97Ile) - VUS g.134948035T>A g.135831325T>A MGC88118:290A>T N97I - CT45A5_000014 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 3 - c.291T>C r.(?) p.(=) - VUS g.134948034A>G g.135831324= MGC88118:291T>C N97N - CT45A5_000001 recurrent, found 136 times PubMed: Tarpey 2009 - - Germline - 136/208 cases - - - Yu Sun, Lucy Raymond
-?/., ?/. 3 - c.302A>G r.(?) p.(Asn101Ser) - likely benign, 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)), 1 more item - CT45A5_000006 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.311G>A r.(?) p.(Gly104Glu) - VUS g.134948014C>T g.135883115C>T MGC88118:311G>A G104E - CT45A5_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.358C>G r.(?) p.(Gln120Glu) - VUS g.134947967G>C g.135883068G>C MGC88118:358C>G Q120E - CT45A5_000012 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - Lucy Raymond
?/. 1 - c.359A>G r.(?) p.(Gln120Arg) - VUS g.134947966T>C g.135883067T>C Q120R - CT45A5_000011 recurrent, found 144 times PubMed: Tarpey 2009 - - Germline - 144/208 cases - - - Lucy Raymond
?/. 1 - c.374A>T r.(?) p.(Asp125Val) - VUS g.134947951T>A g.135883052T>A MGC88118:374A>T D125V - CT45A5_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.383G>A r.(?) p.(Cys128Tyr) - likely benign g.134947942C>T - CT45A10(NM_001291527.1):c.383G>A (p.C128Y) - CT45A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.388G>T r.(?) p.(Val130Leu) - VUS g.134947937C>A g.135883038C>A MGC88118:388G>T V130L - CT45A5_000009 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Lucy Raymond
?/. 1 - c.409C>A r.(?) p.(Leu137Ile) - VUS g.134947916G>T g.135883017G>T MGC88118:409C>A L137I - CT45A5_000008 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - Lucy Raymond
?/. 1 - c.416G>A r.(?) p.(Arg139Gln) - VUS g.134947909C>T g.135883010C>T MGC88118:416G>A R139Q - CT45A5_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.418+180T>C r.(=) p.(=) - VUS g.134947727A>G g.135831017A>G - - CT45A5_000005 - - - - Germline - - - - - Yu Sun
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