Full data view for gene CXorf66

Information The variants shown are described using the NM_001013403.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.32C>T r.(?) p.(Ser11Phe) Unknown - VUS g.139047624G>A g.139965465G>A CXorf66(NM_001013403.2):c.32C>T (p.(Ser11Phe)) - CXorf66_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.89-268_89-267del r.(=) p.(=) Unknown - VUS g.139040654_139040655del g.139958495_139958496del - - CXorf66_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.89-266_89-265del r.(=) p.(=) Unknown - VUS g.139040642_139040643del g.139958483_139958484del - - CXorf66_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.115A>G r.(?) p.(Thr39Ala) Parent #1 - VUS g.139040350T>C g.139958191T>C - - CXorf66_000008 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
?/. - c.260T>A r.(?) p.(Ile87Lys) Unknown - VUS g.139038881A>T g.139956722A>T CXorf66(NM_001013403.2):c.260T>A (p.(Ile87Lys)) - CXorf66_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.311A>G r.(?) p.(Gln104Arg) Unknown - likely benign g.139038830T>C g.139956671T>C CXorf66(NM_001013403.2):c.311A>G (p.Q104R) - CXorf66_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591G>A r.(?) p.(Ala197=) Unknown - likely benign g.139038550C>T g.139956391C>T CXorf66(NM_001013403.2):c.591G>A (p.A197=) - CXorf66_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.698C>T r.(?) p.(Pro233Leu) Parent #1 - VUS g.139038443G>A g.139956284G>A - - CXorf66_000007 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 17 Lucy Raymond
-?/. - c.780T>C r.(?) p.(Ser260=) Unknown - likely benign g.139038361A>G - CXorf66(NM_001013403.2):c.780T>C (p.S260=) - CXorf66_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1029C>T r.(?) p.(Ile343=) Unknown - likely benign g.139038112G>A - CXorf66(NM_001013403.2):c.1029C>T (p.I343=) - CXorf66_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1034C>T r.(?) p.(Thr345Met) Unknown - benign g.139038107G>A g.139955948G>A CXorf66(NM_001013403.2):c.1034C>T (p.T345M) - CXorf66_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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