Full data view for gene PDE4DIP

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.442-21G>A r.(=) p.(=) Unknown - VUS g.144994722C>T g.148889763G>A PDE4DIP(NM_014644.5):c.10G>A (p.G4R) - PDE4DIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.632C>G r.(?) p.(Ala211Gly) Unknown - benign g.144952687G>C g.148931802C>G PDE4DIP(NM_014644.5):c.221C>G (p.A74G) - PDE4DIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*21220T>G r.(=) p.(=) Unknown - benign g.144930977A>C g.148953498T>G PDE4DIP(NM_001002811.2):c.732T>G (p.S244=) - PDE4DIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*21381T>C r.(=) p.(=) Unknown - VUS g.144930816A>G g.148953659= PDE4DIP(NM_001002811.2):c.893T>C (p.L298P) - PDE4DIP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*21451A>G r.(=) p.(=) Unknown - likely benign g.144930746T>C g.148953729T>G PDE4DIP(NM_001002811.2):c.963A>G (p.G321=) - PDE4DIP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*21574G>C r.(=) p.(=) Unknown - VUS g.144930623C>G g.148953852= PDE4DIP(NM_001002811.1):c.1086G>C (p.(Trp362Cys)) - PDE4DIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*34329T>G r.(=) p.(=) Unknown - VUS g.144917868A>C g.148966607T>G PDE4DIP(NM_014644.5):c.1418T>G (p.L473W) - PDE4DIP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*35445T>C r.(=) p.(=) Unknown - likely benign g.144916752A>G g.148967723T>C PDE4DIP(NM_001002811.1):c.2095-3T>C (p.?) - PDE4DIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*42238A>G r.(=) p.(=) Unknown - VUS g.144909959T>C - PDE4DIP(NM_001002811.1):c.2718A>G (p.(=)) - PDE4DIP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*69349G>A r.(=) p.(=) Unknown - likely benign g.144882848C>T - PDE4DIP(NM_001350520.1):c.3660G>A (p.A1220=) - PDE4DIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*70753A>G r.(=) p.(=) Unknown - VUS g.144881444T>C g.149003028A>G PDE4DIP(NM_014644.5):c.3752A>G (p.Y1251C) - PDE4DIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*80409G>C r.(=) p.(=) Unknown - VUS g.144871788C>G g.149012684G>C PDE4DIP(NM_014644.5):c.5174G>C (p.G1725A) - PDE4DIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*92308C>A r.(=) p.(=) Unknown - likely benign g.144859889G>T - PDE4DIP(NM_001198832.1):c.5877C>A (p.(Asn1959Lys)) - PDE4DIP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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