Full data view for gene PDE3A

Information The variants shown are described using the NM_000921.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

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.296A>C r.(?) p.(Glu99Ala) - - - Unknown - likely benign g.20522514A>C g.20369580A>C PDE3A(NM_000921.4):c.296A>C (p.(Glu99Ala)) - PDE3A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.505G>C r.(?) p.(Gly169Arg) - - - Unknown - likely benign g.20522723G>C g.20369789G>C PDE3A(NM_000921.4):c.505G>C (p.(Gly169Arg)) - PDE3A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578T>C r.(?) p.(Val193Ala) - - - Unknown - likely benign g.20522796T>C g.20369862T>C PDE3A(NM_000921.4):c.578T>C (p.(Val193Ala)) - PDE3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670G>C r.(?) p.(Val224Leu) - - - Unknown - VUS g.20522888G>C - PDE3A(NM_000921.4):c.670G>C (p.(Val224Leu)) - PDE3A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679A>C r.(?) p.(Ile227Leu) - - - Unknown - VUS g.20522897A>C g.20369963A>C PDE3A(NM_000921.4):c.679A>C (p.I227L) - PDE3A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.930G>T r.(?) p.(Arg310Ser) - - - Unknown - VUS g.20523148G>T g.20370214G>T PDE3A(NM_000921.4):c.930G>T (p.R310S) - PDE3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.1333A>G r.(?) p.(Thr445Ala) - - - Unknown - pathogenic g.20769227A>G g.20616293A>G - - PDE3A_000005 - PubMed: Maass et al. 2015 - - Germline yes - - 0 - DNA SEQ - - HTNB - PubMed: Maass 2015 2-generation family, 4 affected F;M - France - - 0 - - 4 Arrate Pereda
+/. 4 c.1334C>A r.(?) p.(Thr445Asn) - - - Unknown - pathogenic g.20769228C>A g.20616294C>A - - PDE3A_000001 - PubMed: Maass et al. 2015 - - Germline yes - - 0 - DNA, protein FISH, SEQ, SEQ-NG, Western - - HTNB - PubMed: Maass 2015 7-generation family, 45 affected F;M - Turkey - - 0 - - 45 Arrate Pereda
+/. 4 c.1334C>G r.(?) p.(Thr445Ser) - - - Unknown - pathogenic g.20769228C>G g.20616294C>G - - PDE3A_000006 - PubMed: Maass et al. 2015 - - Germline yes - - 0 - DNA SEQ - - HTNB - PubMed: Maass 2015 5-geneation family, 8 affected F;M - United States - - 0 - - 8 Arrate Pereda
+?/. 4 c.1336T>C r.(?) p.(Ser446Pro) - - - Unknown - likely pathogenic g.20769230T>C g.20616296T>C - - PDE3A_000004 - PubMed: Boda et al. 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HTNB - PubMed: Boda 2016 3 generation family, 4 affected F;M - Japan - - 0 - - 4 Arrate Pereda
+/. 4 c.1339G>A r.(?) p.(Ala447Thr) - - - Unknown - pathogenic g.20769233G>A g.20616299G>A - - PDE3A_000002 - PubMed: Maass et al. 2015 - - De novo - - - 0 - DNA SEQ - - HTNB - PubMed: Maass 2015 Sporadic patient F - South Africa - - 0 - - 1 Arrate Pereda
+/. 4 c.1340C>T r.(?) p.(Ala447Val) - - - Unknown - pathogenic g.20769234C>T g.20616300C>T - - PDE3A_000008 - PubMed: Maass et al. 2015 - - Germline yes - - 0 - DNA SEQ - - HTNB - PubMed: Maass 2015 3-generation family, 6 affected F;M - Canada - - 0 - - 6 Arrate Pereda
+/. 4 c.1346G>A r.(?) p.(Gly449Asp) - - - Maternal (confirmed) - pathogenic g.20769240G>A g.20616306G>A - - PDE3A_000007 - PubMed: van den Born et al. 2016 - - Germline yes - - 0 - DNA SEQ - - HTNB - PubMed: van den Born 2016 2-generation family, 3 affected (proband: daughter; mother; brother) F;M - Netherlands - - 0 - thiazide diuretic, an angiotensin-converting enzyme inhibitor 3 Arrate Pereda
+/. 4 c.1346G>T r.(?) p.(Gly449Val) - - - Unknown - pathogenic g.20769240G>T g.20616306G>T - - PDE3A_000003 - PubMed: Maass et al. 2015 - - Germline yes - - 0 - DNA SEQ - - HTNB - PubMed: Maass 2015 3-generation family, 6 affected F;M - Canada - - 0 - - 6 Arrate Pereda
-?/. - c.1376G>A r.(?) p.(Arg459Gln) - - - Unknown - likely benign g.20769270G>A - PDE3A(NM_000921.4):c.1376G>A (p.(Arg459Gln)) - PDE3A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1490A>G r.(?) p.(Tyr497Cys) - - - Unknown - likely benign g.20774295A>G - PDE3A(NM_000921.4):c.1490A>G (p.(Tyr497Cys)) - PDE3A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1801C>A r.(?) p.(Pro601Thr) - - - Unknown - likely benign g.20786667C>A - PDE3A(NM_000921.4):c.1801C>A (p.(Pro601Thr)) - PDE3A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1943A>T r.(?) p.(Glu648Val) - - - Unknown - likely benign g.20787932A>T g.20634998A>T PDE3A(NM_000921.4):c.1943A>T (p.(Glu648Val)) - PDE3A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2397G>A r.(?) p.(Met799Ile) - - - Unknown - likely benign g.20799716G>A - PDE3A(NM_000921.4):c.2397G>A (p.(Met799Ile)) - PDE3A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2729T>C r.(?) p.(Leu910Pro) - - - Unknown - likely pathogenic g.20801785T>C - PDE3A(NM_000921.4):c.2729T>C (p.L910P) - PDE3A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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