Full data view for gene CXorf23

Information The variants shown are described using the NM_198279.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.110G>A r.(?) p.(Cys37Tyr) Unknown - likely benign g.19984699C>T g.19966581C>T CXorf23(NM_198279.3):c.110G>A (p.C37Y) - CXorf23_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.222T>C r.(?) p.(Tyr74=) Unknown - likely benign g.19984587A>G g.19966469A>G BCLAF3(NM_001367774.1):c.222T>C (p.Y74=) - CXorf23_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235C>A r.(?) p.(Pro79Thr) Unknown - likely benign g.19984574G>T g.19966456G>T CXorf23(NM_198279.3):c.235C>A (p.(Pro79Thr)) - CXorf23_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.631G>T r.(?) p.(Val211Leu) Parent #1 - VUS g.19983805C>A - V211L - CXorf23_000007 found once, nonrecurrent change Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. 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.785G>A r.(?) p.(Arg262Gln) Unknown - likely benign g.19983651C>T g.19965533C>T CXorf23(NM_198279.3):c.785G>A (p.(Arg262Gln)) - CXorf23_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1616A>G r.(?) p.(Tyr539Cys) Unknown - VUS g.19971119T>C g.19953001T>C CXorf23(NM_198279.3):c.1616A>G (p.(Tyr539Cys)) - CXorf23_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1877G>A r.(?) p.(Gly626Asp) Unknown - VUS g.19948045C>T g.19929927C>T CXorf23(NM_198279.3):c.1877G>A (p.(Gly626Asp)) - CXorf23_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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