All transcript variants in gene DCAF12L1

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

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     
?/. - c.56A>G - r.(?) p.(Asp19Gly) g.125686536T>C - - - DCAF12L1_000003 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - Lucy Raymond
-?/. - c.1009G>A likely benign r.(?) p.(Asp337Asn) g.125685583C>T - DCAF12L1:c.1009G>A (D337N) - DCAF12L1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1009G>A likely benign - - g.125685583C>T - DCAF12L1:NM_178470.4:c.1009G>A - DCAF12L1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1137C>T - r.(=) p.(=) g.125685455G>A - A379A - DCAF12L1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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