Unique variants in gene C8orf44

Information The variants shown are described using the NM_019607.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.208C>T r.(?) p.(Arg70Ter) - likely benign g.67590151C>T g.66677916C>T C8orf44(NM_019607.2):c.208C>T (p.(Arg70Ter)) - C8orf44_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*113655G>T r.(=) p.(=) - likely benign g.67705844G>T g.66793609G>T C8orf44-SGK3(NM_001204173.1):c.-121-7G>T (p.(=)) - C8orf44_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*113656G>T r.(=) p.(=) - likely benign g.67705845G>T g.66793610G>T C8orf44-SGK3(NM_001204173.1):c.-121-6G>T (p.(=)) - C8orf44_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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