Full data view for gene PDE10A

Information The variants shown are described using the NM_001130690.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.197-7del r.(=) p.(=) Unknown - likely benign g.165895838del g.165482350del PDE10A(NM_001130690.2):c.197-7del (p.(=)) - PDE10A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199G>A r.(?) p.(Glu67Lys) Unknown - VUS g.165895829C>T - PDE10A(NM_006661.4):c.169G>A (p.E57K) - PDE10A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - pathogenic g.165863756T>C g.165450268T>C - - PDE10A_000002 - PubMed: Diggle 2016, Journal: Diggle 2016 - - Germline - - - - - DNA arraySNP, SEQ - - IOLOD 27058446-Fam1PatV1 PubMed: Diggle 2016, Journal: Diggle 2016 2 generation family, 5 affecteds, unaffected heterozygous carrier parents, Fam1PatV1 F yes Pakistan - >17y - - - 5 Pieter Klap
+/. 4 c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - pathogenic g.165863756T>C g.165450268T>C - - PDE10A_000002 - PubMed: Diggle 2016, Journal: Diggle 2016 - - Germline - - - - - DNA arraySNP, SEQ - - IOLOD 27058446-Fam1PatV2 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV2 F yes Pakistan - >16y - - - 1 Pieter Klap
+/. 4 c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - pathogenic g.165863756T>C g.165450268T>C - - PDE10A_000002 - PubMed: Diggle 2016, Journal: Diggle 2016 - - Germline - - - - - DNA arraySNP, SEQ - - IOLOD 27058446-Fam1PatV3 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV3 F yes Pakistan - >13y - - - 1 Pieter Klap
+/. 4 c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - pathogenic g.165863756T>C g.165450268T>C - - PDE10A_000002 - PubMed: Diggle 2016, Journal: Diggle 2016 - - Germline - - - - - DNA arraySNP, SEQ - - IOLOD 27058446-Fam1PatV4 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV4 M yes Pakistan - >02y - - - 1 Pieter Klap
+/. 4 c.346G>C r.(?) p.(Ala116Pro) Both (homozygous) - pathogenic g.165863730C>G g.165450242C>G - - PDE10A_000001 - PubMed: Diggle 2016, Journal: Diggle 2016 - - Germline - - - - - DNA SEQ - - IOLOD 27058446-Fam2PatIV1 PubMed: Diggle 2016, Journal: Diggle 2016 2 generation family, affected sister/brother, unaffected heterozygous carrier parents, Fam2PatIV1 M yes Finland - >10y - - - 2 Pieter Klap
+/. 4 c.346G>C r.(?) p.(Ala116Pro) Both (homozygous) - pathogenic g.165863730C>G g.165450242C>G - - PDE10A_000001 - PubMed: Diggle 2016, Journal: Diggle 2016 - - Germline - - - - - DNA SEQ - - IOLOD 27058446-Fam2PatIV2 PubMed: Diggle 2016, Journal: Diggle 2016 Fam2PatIV2 M yes Finland - >09y - - - 1 Pieter Klap
?/. - c.404G>C r.(?) p.(Cys135Ser) Unknown - VUS g.165848858C>G g.165435370C>G PDE10A(NM_006661.3):c.374G>C (p.C125S) - PDE10A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.481G>A r.(?) p.(Val161Ile) Unknown - likely benign g.165848781C>T - PDE10A(NM_006661.3):c.451G>A (p.V151I) - PDE10A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532C>A r.(?) p.(Leu178Ile) Unknown - likely benign g.165848730G>T - PDE10A(NM_006661.3):c.502C>A (p.L168I) - PDE10A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.619A>G r.(?) p.(Ile207Val) Unknown - likely benign g.165846536T>C g.165433048T>C PDE10A(NM_006661.3):c.589A>G (p.I197V) - PDE10A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693+7C>G r.(=) p.(=) Unknown - likely benign g.165846455G>C g.165432967G>C PDE10A(NM_006661.3):c.663+7C>G - PDE10A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.694-3dup r.spl? p.? Unknown - likely benign g.165844970dup - PDE10A(NM_006661.3):c.664-3dupT - PDE10A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>A r.(?) p.(Glu282Lys) Unknown - VUS g.165842157C>T - PDE10A(NM_001130690.2):c.844G>A (p.(Glu282Lys)) - PDE10A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.898T>C r.(?) p.(Phe300Leu) Unknown - pathogenic g.165832223A>G g.165418735A>G - - PDE10A_000004 - PubMed: Mencacci 2016, Journal: Mencacci et al. - - De novo - - - - - DNA SEQ peripheral lymphocytes - ADSD2 27058447 induvidual 2 PubMed: Mencacci 2016, Journal: Mencacci 2016 - F - (United Kingdom (Great Britain)) European >22y - - - 1 Pieter Klap
+/. 11 c.898T>C r.(?) p.(Phe300Leu) Unknown - pathogenic g.165832223A>G g.165418735A>G - - PDE10A_000004 - PubMed: Mencacci 2016, Journal: Mencacci et al. - - De novo - - - - - DNA SEQ peripheral lymphocytes - ADSD2 27058447 induvidual 3 PubMed: Mencacci 2016, Journal: Mencacci 2016 - F - (United Kingdom (Great Britain)) European >60y - - - 1 Pieter Klap
+/. 11 c.898T>C r.(?) p.(Phe300Leu) Parent #1 - pathogenic g.165832223A>G g.165418735A>G - - PDE10A_000004 - PubMed: Niccolò 2016, Journal: Niccolò 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ADSD2 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier parents F - - British >22y - - - 1 Jamie Zeegers
+/. 11 c.898T>C r.(?) p.(Phe300Leu) Parent #1 - pathogenic g.165832223A>G g.165418735A>G - - PDE10A_000004 - PubMed: Niccolò 2016, Journal: Niccolò 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ADSD2 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier sibs, parents deceased F - - British >60y - - - 1 Jamie Zeegers
+/. 12 c.1000T>C r.(?) p.(Phe334Leu) Unknown - pathogenic g.165829768A>G g.165416280A>G - - PDE10A_000003 - PubMed: Mencacci 2016, Journal: Mencacci et al. - - De novo - - - - - DNA SEQ peripheral lymphocytes - ADSD2 27058447 induvidual 1 PubMed: Mencacci 2016, Journal: Mencacci 2016 - M - (Netherlands) European >11y - - - 1 Pieter Klap
+/. 12 c.1000T>C r.(?) p.(Phe334Leu) Parent #1 - pathogenic g.165829768A>G g.165416280A>G - - PDE10A_000003 - PubMed: Niccolò 2016, Journal: Niccolò 2016 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ADSD2 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier parents M - - Dutch >11y - - - 1 Jamie Zeegers
-?/. - c.1953C>T r.(?) p.(Thr651=) Unknown - likely benign g.165792715G>A g.165379226G>A PDE10A(NM_006661.3):c.1923C>T (p.T641=) - PDE10A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2235C>G r.(?) p.(Leu745=) Unknown - benign g.165749644G>C g.165336155G>C PDE10A(NM_006661.3):c.2205C>G (p.L735=) - PDE10A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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