Unique variants in the CXorf38 gene

Information The variants shown are described using the NM_144970.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.-4342G>C r.(?) p.(=) - likely benign g.40511114C>G g.40651862C>G MED14(NM_004229.3):c.4309G>C (p.(Ala1437Pro)) - MED14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 2 - c.-69T>G r.(=) p.(=) - VUS g.40506841A>C g.40647589A>C - - CXorf38_000002 - - - - Germline - - - - - Yu Sun
?/. 3 - c.76T>C r.(=), r.(?) p.(=) - VUS g.40506697A>G g.40647445A>G L26L - CXorf38_000001 recurrent, found 97 times PubMed: Tarpey 2009 - - Germline - 97/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.76T>G r.(?) p.(Leu26Val) - VUS g.40506697A>C g.40647445A>C CXorf38(NM_144970.2):c.76T>G (p.L26V) - CXorf38_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.469G>C r.(?) p.(Glu157Gln) - VUS g.40498263C>G g.40639011C>G CXorf38(NM_144970.2):c.469G>C (p.E157Q, p.(Glu157Gln)) - CXorf38_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.471+8C>T r.(=) p.(=) - likely benign g.40498253G>A g.40639001G>A CXorf38(NM_144970.2):c.471+8C>T (p.(=)) - CXorf38_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.629C>T r.(?) p.(Thr210Met) - likely benign, VUS g.40495957G>A g.40636705G>A CXorf38(NM_144970.2):c.629C>T (p.(Thr210Met)) - CXorf38_000005 recurrent, found 4 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 4/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 2 - c.812G>A r.(?) p.(Arg271Gln) - likely benign g.40490015C>T g.40630763C>T CXorf38(NM_144970.2):c.812G>A (p.R271Q, p.(Arg271Gln)) - CXorf38_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.937C>T r.(?) p.(Gln313Ter) - VUS g.40489890G>A g.40630638G>A CXorf38(NM_144970.2):c.937C>T (p.(Gln313*)) - CXorf38_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*6249G>A r.(=) p.(=) - VUS g.40483167C>T - MPC1L(NM_001195522.2):c.350C>T (p.P117L) - CXorf38_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*6523T>C r.(=) p.(=) - VUS g.40482893A>G g.40623641A>G MPC1L(NM_001195522.2):c.76A>G (p.S26G) - CXorf38_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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