All transcript variants in gene DCAF12L2

Information The variants shown are described using the NM_001013628.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

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     
-?/. - c.85G>A r.(?) p.(Ala29Thr) - likely benign g.125299823C>T g.126165840C>T DCAF12L2(NM_001013628.2):c.85G>A (p.(Ala29Thr)) - DCAF12L2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.87G>C r.(?) p.(Ala29=) - likely benign g.125299821C>G g.126165838C>G DCAF12L2(NM_001013628.2):c.87G>C (p.A29=) - DCAF12L2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.441C>A r.(?) p.(His147Gln) - VUS g.125299467G>T g.126165484G>T - - DCAF12L2_000007 recurrent, found 46 times PubMed: Tarpey 2009 - - Germline - 46/208 cases - 0 - Lucy Raymond
?/. - c.605G>C r.(?) p.(Trp202Ser) - VUS g.125299303C>G g.126165320C>G DCAF12L2(NM_001013628.2):c.605G>C (p.(Trp202Ser)) - DCAF12L2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.669C>T r.(?) p.(Asp223=) - likely benign g.125299239G>A - DCAF12L2(NM_001013628.2):c.669C>T (p.D223=) - chrX_016100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.720A>C r.(=) p.(=) - likely benign g.125299188T>G g.126165205T>G P240P - DCAF12L2_000006 recurrent, found 31 times PubMed: Tarpey 2009 - - Germline - 31/208 cases - 0 - Lucy Raymond
-?/. - c.809T>G r.(?) p.(Phe270Cys) - likely benign g.125299099A>C g.126165116A>C DCAF12L2(NM_001013628.2):c.809T>G (p.F270C) - DCAF12L2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.811A>G r.(?) p.(Ser271Gly) - likely benign g.125299097T>C g.126165114T>C DCAF12L2(NM_001013628.2):c.811A>G (p.S271G) - DCAF12L2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1199G>A r.(?) p.(Arg400Lys) - VUS g.125298709C>T g.126164726C>T DCAF12L2(NM_001013628.2):c.1199G>A (p.(Arg400Lys)) - DCAF12L2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1218C>T r.(=) p.(=) - likely benign g.125298690G>A g.126164707G>A C406C - DCAF12L2_000005 recurrent, found 50 times PubMed: Tarpey 2009 - - Germline - 50/208 cases - 0 - Lucy Raymond
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