All variants in the CXorf30 gene

Information The variants shown are described using the NM_001098843.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

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     
-/. - c.1459G>A r.(?) p.(Asp487Asn) - benign g.36385178G>A g.36367063G>A CFAP47(NM_001304548.1):c.9121G>A (p.D3041N), CXorf30(NM_001098843.4):c.1459G>A (p.(Asp487Asn)) - CXorf30_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1459G>A r.(?) p.(Asp487Asn) - VUS g.36385178G>A g.36367063G>A CFAP47(NM_001304548.1):c.9121G>A (p.D3041N), CXorf30(NM_001098843.4):c.1459G>A (p.(Asp487Asn)) - CXorf30_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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