Unique variants in the CTAG2 gene

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

15 entries on 1 page. Showing entries 1 - 15.
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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.-840640_*314701dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.17A>G r.(?) p.(Gln6Arg) - VUS g.153881773T>C g.154653499= - - CTAG2_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.68T>C r.(?) p.(Ile23Thr) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.169A>G r.(?) p.(Arg57Gly) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.177C>G r.(?) p.(Gly59=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.217G>C r.(?) p.(Asp73His) - likely benign g.153881573C>G - CTAG2(NM_020994.4):c.217G>C (p.D73H) - CTAG2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.252C>G r.(?) p.(Asp84Glu) - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.265C>G r.(?) p.(Gln89Glu) - VUS g.153881525G>C g.154653251= - - CTAG2_000006 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.269+5C>T r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.269+153G>C r.(=) p.(=) - VUS g.153881368C>G g.154653094= - - CTAG2_000004 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 2 c.345T>G r.(?) p.(=) - likely benign, VUS g.153880830A>C g.154652556= P115P - CTAG2_000009 recurrent, found 60 times PubMed: Tarpey 2009 - - Germline - 60/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.412C>T r.(?) p.(Arg138Trp) - likely benign g.153880763G>A - CTAG2(NM_020994.4):c.412C>T (p.R138W) - CTAG2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.521A>G r.(?) p.(Lys174Arg) - likely benign g.153880654T>C - CTAG2(NM_020994.3):c.521A>G (p.(Lys174Arg)) - CTAG2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 2 c.522G>T r.(?) p.(Lys174Asn) - VUS g.153880653C>A g.154652379C>A K174N - CTAG2_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.*65T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
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