Full data view for 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)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

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Consanguinity     

Country     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.85G>A likely benign r.(?) p.(Ala29Thr) Unknown g.125299823C>T - DCAF12L2(NM_001013628.2):c.85G>A (p.(Ala29Thr)) - DCAF12L2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441C>A - r.(?) p.(His147Gln) Parent #1 g.125299467G>T - - - DCAF12L2_000007 recurrent, found 46 times PubMed: Tarpey 2009 - - Germline - 46/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 46 Lucy Raymond
-?/. - c.533A>G likely benign r.(?) p.(Gln178Arg) Unknown g.125299375T>C - DCAF12L2(NM_001013628.2):c.533A>G (p.(Gln178Arg)) - DCAF12L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.605G>C VUS r.(?) p.(Trp202Ser) Unknown g.125299303C>G - DCAF12L2(NM_001013628.2):c.605G>C (p.(Trp202Ser)) - DCAF12L2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.629G>C likely benign r.(?) p.(Ser210Thr) Unknown g.125299279C>G - DCAF12L2(NM_001013628.2):c.629G>C (p.(Ser210Thr)) - DCAF12L2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.720A>C - r.(=) p.(=) Parent #1 g.125299188T>G - P240P - DCAF12L2_000006 recurrent, found 31 times PubMed: Tarpey 2009 - - Germline - 31/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 31 Lucy Raymond
-?/. - c.809T>G likely benign r.(?) p.(Phe270Cys) Unknown g.125299099A>C - DCAF12L2(NM_001013628.2):c.809T>G (p.F270C) - DCAF12L2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811A>G likely benign r.(?) p.(Ser271Gly) Unknown g.125299097T>C - DCAF12L2(NM_001013628.2):c.811A>G (p.S271G) - DCAF12L2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199G>A VUS r.(?) p.(Arg400Lys) Unknown g.125298709C>T - DCAF12L2(NM_001013628.2):c.1199G>A (p.(Arg400Lys)) - DCAF12L2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1218C>T - r.(=) p.(=) Parent #1 g.125298690G>A - C406C - DCAF12L2_000005 recurrent, found 50 times PubMed: Tarpey 2009 - - Germline - 50/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 50 Lucy Raymond
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