Unique variants in the DCAF8L1 gene

Information The variants shown are described using the NM_001017930.1 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.25G>A r.(?) p.(Gly9Ser) - VUS g.27999427C>T g.27981310C>T - - DCAF8L1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.39C>T r.(?) p.(Asp13=) - likely benign g.27999413G>A g.27981296G>A DCAF8L1(NM_001017930.1):c.39C>T (p.D13=) - DCAF8L1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.95T>C r.(?) p.(Val32Ala) - likely benign g.27999357A>G g.27981240A>G DCAF8L1(NM_001017930.1):c.95T>C (p.V32A) - DCAF8L1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.98C>A r.(?) p.(Thr33Lys) - likely benign g.27999354G>T g.27981237G>T DCAF8L1(NM_001017930.1):c.98C>A (p.(Thr33Lys)) - DCAF8L1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.98C>T r.(?) p.(Thr33Met) - VUS g.27999354G>A g.27981237G>A DCAF8L1(NM_001017930.1):c.98C>T (p.(Thr33Met)) - DCAF8L1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.188C>T r.(?) p.(Ala63Val) - likely benign g.27999264G>A g.27981147G>A DCAF8L1(NM_001017930.1):c.188C>T (p.(Ala63Val)) - DCAF8L1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 - c.306G>A r.(=), r.(?) p.(=) - likely benign, VUS g.27999146C>T g.27981029C>T E102E - DCAF8L1_000003 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.332_343dup r.(?) p.(Gly111_Glu114dup) - VUS g.27999120_27999131dup - DCAF8L1(NM_001017930.1):c.332_343dupGGGAGGAGGAAG (p.G111_E114dup) - DCAF8L1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.370G>A r.(?) p.(Gly124Ser) - VUS g.27999082C>T g.27980965C>T DCAF8L1(NM_001017930.1):c.370G>A (p.(Gly124Ser)) - DCAF8L1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.410A>C r.(?) p.(Gln137Pro) - likely benign g.27999042T>G - DCAF8L1(NM_001017930.1):c.410A>C (p.Q137P) - DCAF8L1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.512G>A r.(?) p.(Arg171His) - likely benign g.27998940C>T g.27980823C>T DCAF8L1(NM_001017930.1):c.512G>A (p.(Arg171His)) - DCAF8L1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.630A>G r.(?) p.(Arg210=) - likely benign g.27998822T>C g.27980705T>C DCAF8L1(NM_001017930.1):c.630A>G (p.R210=) - DCAF8L1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.643G>A r.(?) p.(Gly215Ser) - VUS g.27998809C>T g.27980692C>T - - DCAF8L1_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.868C>T r.(?) p.(His290Tyr) - VUS g.27998584G>A g.27980467G>A DCAF8L1(NM_001017930.1):c.868C>T (p.H290Y) - DCAF8L1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1201G>T r.(?) p.(Asp401Tyr) - VUS g.27998251C>A g.27980134C>A DCAF8L1(NM_001017930.1):c.1201G>T (p.D401Y) - DCAF8L1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1346G>A r.(?) p.(Arg449Gln) - likely benign g.27998106C>T g.27979989C>T DCAF8L1(NM_001017930.1):c.1346G>A (p.R449Q) - DCAF8L1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1558G>C r.(?) p.(Gly520Arg) - VUS g.27997894C>G g.27979777C>G - - DCAF8L1_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1687G>C r.(?) p.(Gly563Arg) - likely benign g.27997765C>G g.27979648C>G DCAF8L1(NM_001017930.1):c.1687G>C (p.G563R) - DCAF8L1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 - c.*273dup r.(=) p.(=) - VUS g.27997380dup g.27979263dup - - DCAF8L1_000001, DCAF8L1_000006 - - - - Germline - - - - - Yu Sun
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