Full data view for gene CCDC65

Information The variants shown are described using the NM_033124.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.356G>A likely benign r.(?) p.(Ser119Asn) Unknown g.49308242G>A - CCDC65(NM_033124.4):c.356G>A (p.(Ser119Asn)) - CCDC65_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.649_650insC likely pathogenic r.(?) p.(Asn217Thrfs*19) Unknown g.49312097_49312098insC - CCDC65(NM_033124.4):c.649_650insC (p.N217Tfs*19) - CCDC65_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1429G>A likely benign r.(?) p.(Gly477Ser) Unknown g.49315200G>A - CCDC65(NM_033124.4):c.1429G>A (p.(Gly477Ser)) - CCDC65_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3634G>A likely benign r.(=) p.(=) Unknown g.49318860G>A - FKBP11(NM_001143782.1):c.164C>T (p.(Ala55Val)) - CCDC65_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3982_*3999del VUS r.(=) p.(=) Unknown g.49319208_49319225del - FKBP11(NM_001143781.1):c.-777_-760del (p.(=)) - CCDC65_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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