Unique variants in the CXorf27 gene

Information The variants shown are described using the NM_012274.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.48G>C r.(?) p.(Gln16His) - VUS g.37850140G>C g.37990887G>C CXorf27(NM_012274.1):c.48G>C (p.(Gln16His)) - CXorf27_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.171C>T r.(=) p.(=) - likely benign g.37850263C>T g.37991010C>T L57L - CXorf27_000003 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.236G>T r.(?) p.(Arg79Leu) - likely benign g.37850328G>T - HYPM(NM_012274.1):c.236G>T (p.R79L) - CXorf27_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.292G>A r.(?) p.(Ala98Thr) - VUS g.37850384G>A g.37991131G>A - - CXorf27_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
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