All transcript variants in gene PDE4DIP

Information The variants shown are described using the NM_022359.5 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.416C>A likely benign r.(?) p.(Thr139Asn) g.145015885G>T - PDE4DIP(NM_001198832.1):c.203C>A (p.(Thr68Asn), p.(Thr139Asn)) - PDE4DIP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.442-21G>A VUS r.(=) p.(=) g.144994722C>T - PDE4DIP(NM_014644.5):c.10G>A (p.G4R) - PDE4DIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.449A>G likely benign r.(?) p.(Asn150Ser) g.144994694T>C - PDE4DIP(NM_001002810.3):c.38A>G (p.(Asn13Ser), p.(=), p.(Asn16Ser), p.(Asn79Ser), p.(Asn150Ser)) - PDE4DIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.632C>G benign r.(?) p.(Ala211Gly) g.144952687G>C - PDE4DIP(NM_014644.5):c.221C>G (p.A74G) - PDE4DIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*21220T>G benign r.(=) p.(=) g.144930977A>C - PDE4DIP(NM_001002811.2):c.732T>G (p.=) - PDE4DIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*21381T>C VUS r.(=) p.(=) g.144930816A>G - PDE4DIP(NM_001002811.2):c.893T>C (p.L298P) - PDE4DIP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*21407C>T VUS r.(=) p.(=) g.144930790G>A - PDE4DIP(NM_001002811.1):c.919C>T (p.(Arg307Ter)) - PDE4DIP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*21451A>G likely benign r.(=) p.(=) g.144930746T>C - PDE4DIP(NM_001002811.2):c.963A>G (p.G321=) - PDE4DIP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*21574G>C VUS r.(=) p.(=) g.144930623C>G - PDE4DIP(NM_001002811.1):c.1086G>C (p.(Trp362Cys)) - PDE4DIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*34329T>G VUS r.(=) p.(=) g.144917868A>C - PDE4DIP(NM_014644.5):c.1418T>G (p.L473W) - PDE4DIP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*35445T>C likely benign r.(=) p.(=) g.144916752A>G - PDE4DIP(NM_001002811.1):c.2095-3T>C (p.?) - PDE4DIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*70753A>G VUS r.(=) p.(=) g.144881444T>C - PDE4DIP(NM_014644.5):c.3752A>G (p.Y1251C) - PDE4DIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*77343C>T VUS r.(=) p.(=) g.144874854G>A - PDE4DIP(NM_014644.4):c.4754C>T (p.(Ala1585Val)) - PDE4DIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*80409G>C VUS r.(=) p.(=) g.144871788C>G - PDE4DIP(NM_014644.5):c.5174G>C (p.G1725A) - PDE4DIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*84194T>A likely benign r.(=) p.(=) g.144868003A>T - PDE4DIP(NM_001198832.1):c.5118T>A (p.(Asp1706Glu), p.(Asp1812Glu)) - PDE4DIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*84244C>T likely benign r.(=) p.(=) g.144867953G>A - PDE4DIP(NM_001198832.1):c.5168C>T (p.(Ser1723Phe), p.(Ser1829Phe)) - PDE4DIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*85568A>C likely benign r.(=) p.(=) g.144866629T>G - PDE4DIP(NM_001198832.1):c.5295A>C (p.(Gln1765His), p.(Gln1871His)) - PDE4DIP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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