Full data view for gene CXorf21

NOTE: gene name changed from CXorf21 to TASL
Information The variants shown are described using the NM_025159.2 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.95A>C r.(?) p.(Glu32Ala) Unknown - VUS g.30578378T>G g.30560261T>G CXorf21(NM_025159.2):c.95A>C (p.(Glu32Ala)) - CXorf21_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.223C>A r.(?) p.(His75Asn) Unknown - likely benign g.30578250G>T g.30560133G>T CXorf21(NM_025159.2):c.223C>A (p.H75N) - CXorf21_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289T>G r.(?) p.(Leu97Val) Unknown - likely benign g.30578184A>C g.30560067A>C CXorf21(NM_025159.2):c.289T>G (p.L97V) - CXorf21_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362G>T r.(?) p.(Cys121Phe) Parent #1 - VUS g.30578111C>A g.30559994C>A - - CXorf21_000004 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.362G>T r.(?) p.(Cys121Phe) Unknown - likely benign g.30578111C>A g.30559994C>A CXorf21(NM_025159.2):c.362G>T (p.C121F) - CXorf21_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - likely benign g.30577925C>T - CXorf21(NM_025159.2):c.548G>A (p.R183Q) - CXorf21_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.627T>G r.(=) p.(=) Parent #1 - VUS g.30577846A>C g.30559729A>C V209V - CXorf21_000003 recurrent, found 122 times PubMed: Tarpey 2009 - - Germline - 122/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 122 Lucy Raymond
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