Full data view for gene DCAF12L1

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.56A>G r.(?) p.(Asp19Gly) Parent #1 - VUS g.125686536T>C g.126552553T>C - - DCAF12L1_000003 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Lucy Raymond
-?/. - c.345C>G r.(?) p.(Thr115=) Unknown - likely benign g.125686247G>C - DCAF12L1(NM_178470.4):c.345C>G (p.T115=) - DCAF12L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.392C>G r.(?) p.(Ala131Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1009G>A r.(?) p.(Asp337Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1009G>A r.(?) p.(Asp337Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1137C>T r.(=) p.(=) Parent #1 - likely benign g.125685455G>A g.126551472G>A A379A - DCAF12L1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
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