All variants in the CCDC65 gene

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

9 entries on 1 page. Showing entries 1 - 9.
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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.356G>A r.(?) p.(Ser119Asn) - likely benign g.49308242G>A g.48914459G>A CCDC65(NM_033124.4):c.356G>A (p.(Ser119Asn)) - CCDC65_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.649_650insC r.(?) p.(Asn217ThrfsTer19) - likely pathogenic g.49312097_49312098insC g.48918314_48918315insC CCDC65(NM_033124.4):c.649_650insC (p.N217Tfs*19) - CCDC65_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.880C>T r.(?) p.(Arg294Cys) - benign g.49312540C>T g.48918757C>T - - CCDC65_000005 62 heterozygous; Clinindb (India) Faruq 2020, submtted - rs78877829 Germline - 62/2795 individuals - 0 - Mohammed Faruq
-/. - c.880C>T r.(?) p.(Arg294Cys) - benign g.49312540C>T g.48918757C>T - - CCDC65_000005 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs78877829 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.1021G>T r.(?) p.(Asp341Tyr) - benign g.49312681G>T g.48918898G>T - - CCDC65_000009 27 heterozygous; Clinindb (India) Faruq 2020, submtted - rs117646559 Germline - 27/2795 individuals - 0 - Mohammed Faruq
-/. - c.1021G>T r.(?) p.(Asp341Tyr) - benign g.49312681G>T g.48918898G>T - - CCDC65_000009 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs117646559 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1429G>A r.(?) p.(Gly477Ser) - likely benign g.49315200G>A g.48921417G>A CCDC65(NM_033124.4):c.1429G>A (p.(Gly477Ser)) - CCDC65_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*3634G>A r.(=) p.(=) - likely benign g.49318860G>A g.48925077G>A FKBP11(NM_001143782.1):c.164C>T (p.(Ala55Val)) - CCDC65_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*3982_*3999del r.(=) p.(=) - VUS g.49319208_49319225del g.48925425_48925442del FKBP11(NM_001143781.1):c.-777_-760del (p.(=)) - CCDC65_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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