Full data view for gene CTAG2

Information The variants shown are described using the NM_020994.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
./. - c.-840640_*314701dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.17A>G r.(?) p.(Gln6Arg) Maternal (inferred) - VUS g.153881773T>C g.154653499= - - CTAG2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.17A>G r.(?) p.(Gln6Arg) Maternal (inferred) - VUS g.153881773T>C g.154653499= - - CTAG2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.68T>C r.(?) p.(Ile23Thr) Unknown - likely benign g.153881722A>G g.154653448A>G CTAG2(NM_020994.3):c.68T>C (p.(Ile23Thr)) - CTAG2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169A>G r.(?) p.(Arg57Gly) Unknown - VUS g.153881621T>C g.154653347T>C CTAG2(NM_020994.3):c.169A>G (p.(Arg57Gly)) - CTAG2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.177C>G r.(?) p.(Gly59=) Unknown - likely benign g.153881613G>C g.154653339G>C CTAG2(NM_020994.4):c.177C>G (p.G59=) - CTAG2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217G>C r.(?) p.(Asp73His) Unknown - likely benign g.153881573C>G - CTAG2(NM_020994.4):c.217G>C (p.D73H) - CTAG2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>G r.(?) p.(Asp84Glu) Unknown - likely benign g.153881538G>C g.154653264G>C CTAG2(NM_020994.3):c.252C>G (p.(Asp84Glu)) - CTAG2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.265C>G r.(?) p.(Gln89Glu) Maternal (inferred) - VUS g.153881525G>C g.154653251= - - CTAG2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.265C>G r.(?) p.(Gln89Glu) Maternal (inferred) - VUS g.153881525G>C g.154653251= - - CTAG2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.269+5C>T r.spl? p.? Unknown - likely benign g.153881516G>A g.154653242G>A CTAG2(NM_020994.3):c.269+5C>T (p.?) - CTAG2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269+153G>C r.(=) p.(=) Maternal (inferred) - VUS g.153881368C>G g.154653094= - - CTAG2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.269+153G>C r.(=) p.(=) Maternal (inferred) - VUS g.153881368C>G g.154653094= - - CTAG2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.345T>G r.(?) p.(=) Maternal (inferred) - VUS g.153880830A>C g.154652556= - - CTAG2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.345T>G r.(?) p.(=) Maternal (inferred) - VUS g.153880830A>C g.154652556= - - CTAG2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 2 c.345T>G r.(?) p.(=) Parent #1 - likely benign g.153880830A>C g.154652556= P115P - CTAG2_000009 recurrent, found 60 times PubMed: Tarpey 2009 - - Germline - 60/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 60 Lucy Raymond
-?/. - c.412C>T r.(?) p.(Arg138Trp) Unknown - likely benign g.153880763G>A - CTAG2(NM_020994.4):c.412C>T (p.R138W) - CTAG2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.521A>G r.(?) p.(Lys174Arg) Unknown - likely benign g.153880654T>C - CTAG2(NM_020994.3):c.521A>G (p.(Lys174Arg)) - CTAG2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.522G>T r.(?) p.(Lys174Asn) Parent #1 - VUS g.153880653C>A g.154652379C>A K174N - CTAG2_000010 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.*65T>C r.(=) p.(=) Unknown - likely benign g.153880477A>G g.154652203A>G CTAG2(NM_020994.3):c.*65T>C (p.(=)) - CTAG2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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