Unique variants in gene DCAF12L1

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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) g.125686536T>C - - - DCAF12L1_000003 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
-?/. 1 - c.392C>G likely benign r.(?) p.(Ala131Gly) g.125686200G>C - DCAF12L1(NM_178470.4):c.392C>G (p.A131G) - DCAF12L1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.468G>A likely benign r.(?) p.(=) g.125686124C>T - DCAF12L1(NM_178470.4):c.468G>A (p.=) - DCAF12L1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1009G>A likely benign r.(?) p.(Asp337Asn) g.125685583C>T - DCAF12L1(NM_178470.4):c.1009G>A (p.(Asp337Asn)) - DCAF12L1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.1137C>T - r.(=) p.(=) g.125685455G>A - A379A - DCAF12L1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
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