Unique variants in the CXorf21 gene

NOTE: gene name changed from CXorf21 to TASL
Information The variants shown are described using the NM_025159.2 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.95A>C r.(?) p.(Glu32Ala) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.223C>A r.(?) p.(His75Asn) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.289T>G r.(?) p.(Leu97Val) - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.362G>T r.(?) p.(Cys121Phe) - likely benign, VUS g.30578111C>A g.30559994C>A CXorf21(NM_025159.2):c.362G>T (p.C121F) - CXorf21_000004 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
-?/. 1 - c.548G>A r.(?) p.(Arg183Gln) - likely benign g.30577925C>T - CXorf21(NM_025159.2):c.548G>A (p.R183Q) - CXorf21_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.627T>G r.(=) p.(=) - VUS g.30577846A>C g.30559729A>C V209V - CXorf21_000003 recurrent, found 122 times PubMed: Tarpey 2009 - - Germline - 122/208 cases - - - Lucy Raymond
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