Unique variants in the DCAF12L1 gene

Information The variants shown are described using the NM_178470.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

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.56A>G r.(?) p.(Asp19Gly) - VUS g.125686536T>C g.126552553T>C - - DCAF12L1_000003 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
-?/. 1 - c.345C>G r.(?) p.(Thr115=) - likely benign g.125686247G>C - DCAF12L1(NM_178470.4):c.345C>G (p.T115=) - DCAF12L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.392C>G r.(?) p.(Ala131Gly) - likely benign g.125686200G>C g.126552217G>C DCAF12L1(NM_178470.4):c.392C>G (p.A131G) - DCAF12L1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1009G>A r.(?) p.(Asp337Asn) - likely benign g.125685583C>T g.126551600C>T DCAF12L1(NM_178470.4):c.1009G>A (p.D337N, p.(Asp337Asn)) - DCAF12L1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1137C>T r.(=) p.(=) - likely benign g.125685455G>A g.126551472G>A A379A - DCAF12L1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
Legend   How to query