Full data view for gene PADI3

Information The variants shown are described using the NM_016233.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+/. 3 c.335T>A r.(?) p.(Leu112His) Both (homozygous) - pathogenic g.17588689T>A g.17262194T>A - - PADI3_000003 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0002 - rs142129409 Germline - - - - - DNA SEQ - - UHS 27866708-Pat3 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.335T>A r.(?) p.(Leu112His) Parent #1 - pathogenic g.17588689T>A g.17262194T>A - - PADI3_000003 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0002 - rs142129409 Germline - - - - - DNA SEQ - - UHS 27866708-Pat8 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.335T>A r.(?) p.(Leu112His) Parent #2 - pathogenic g.17588689T>A g.17262194T>A - - PADI3_000003 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0002 - rs142129409 Germline - - - - - DNA SEQ - - UHS 27866708-Pat4 PubMed: Basmanav 2016, Journal: Basmanav 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.335T>A r.(?) p.(Leu112His) Parent #2 - pathogenic g.17588689T>A g.17262194T>A - - PADI3_000003 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0002 - rs142129409 Germline - - - - - DNA SEQ - - UHS 27866708-Pat5 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.335T>A r.(?) p.(Leu112His) Parent #2 - pathogenic g.17588689T>A g.17262194T>A - - PADI3_000003 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0002 - rs142129409 Germline - - - - - DNA SEQ - - UHS 27866708-Pat6 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.335T>A r.(?) p.(Leu112His) Unknown - pathogenic g.17588689T>A g.17262194T>A PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His)) - PADI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.335T>A r.(?) p.(Leu112His) Unknown - likely pathogenic g.17588689T>A g.17262194T>A PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His)) - PADI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.335T>A r.(?) p.(Leu112His) Unknown - likely pathogenic g.17588689T>A g.17262194T>A PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His)) - PADI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.335T>A r.(?) p.(Leu112His) Unknown - likely pathogenic g.17588689T>A - PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His)) - PADI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.335T>A r.(?) p.(Leu112His) Unknown - pathogenic g.17588689T>A - PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His)) - PADI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.721del r.(?) p.(Arg241AlafsTer58) Unknown - pathogenic g.17596796del g.17270301del PADI3(NM_016233.2):c.721delC (p.R241Afs*58) - PADI3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.856A>G r.(?) p.(Thr286Ala) Unknown - VUS g.17597398A>G - PADI3(NM_016233.2):c.856A>G (p.T286A) - PADI3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.881C>T r.(?) p.(Ala294Val) Both (homozygous) - pathogenic g.17597423C>T g.17270928C>T - - PADI3_000004 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0001 - rs144080386 Germline - - - - - DNA SEQ, SEQ-NG - - UHS 27866708-Fam1Pat1/2 PubMed: Basmanav 2016, Journal: Basmanav 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. 8 c.881C>T r.(?) p.(Ala294Val) Both (homozygous) - pathogenic g.17597423C>T g.17270928C>T - - PADI3_000004 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0001 - rs144080386 Germline - - - - - DNA SEQ, SEQ-NG - - UHS 27866708-Pat2 PubMed: Basmanav 2016, Journal: Basmanav 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Denmark - - - - - 1 Johan den Dunnen
+/. 8 c.881C>T r.(?) p.(Ala294Val) Parent #1 - pathogenic g.17597423C>T g.17270928C>T - - PADI3_000004 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0001 - rs144080386 Germline - - - - - DNA SEQ - - UHS 27866708-Pat4 PubMed: Basmanav 2016, Journal: Basmanav 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.881C>T r.(?) p.(Ala294Val) Parent #1 - pathogenic g.17597423C>T g.17270928C>T - - PADI3_000004 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0001 - rs144080386 Germline - - - - - DNA SEQ - - UHS 27866708-Pat5 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 8 c.881C>T r.(?) p.(Ala294Val) Parent #1 - pathogenic g.17597423C>T g.17270928C>T - - PADI3_000004 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0001 - rs144080386 Germline - - - - - DNA SEQ - - UHS 27866708-Pat6 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 8 c.881C>T r.(?) p.(Ala294Val) Parent #1 - pathogenic g.17597423C>T g.17270928C>T - - PADI3_000004 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0001 - rs144080386 Germline - - - - - DNA SEQ - - UHS 27866708-Pat7 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 8 c.881C>T r.(?) p.(Ala294Val) Parent #1 - pathogenic g.17597423C>T g.17270928C>T - - PADI3_000004 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0001 - rs144080386 Germline - - - - - DNA SEQ - - UHS 27866708-Pat9 PubMed: Basmanav 2016, Journal: Basmanav 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.881C>T r.(?) p.(Ala294Val) Unknown - pathogenic g.17597423C>T g.17270928C>T PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V) - PADI3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.881C>T r.(?) p.(Ala294Val) Unknown - pathogenic g.17597423C>T - PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V) - PADI3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.881C>T r.(?) p.(Ala294Val) Unknown - pathogenic g.17597423C>T - PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V) - PADI3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881C>T r.(?) p.(Ala294Val) Unknown - VUS g.17597423C>T - PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V) - PADI3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1143C>A r.(?) p.(Tyr381*) Unknown - likely pathogenic g.17599930C>A - PADI3(NM_016233.2):c.1143C>A (p.(Tyr381*)) - PADI3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1207G>C r.(?) p.(Gly403Arg) Unknown - VUS g.17601181G>C g.17274686G>C PADI3(NM_016233.2):c.1207G>C (p.G403R) - PADI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1369C>T r.(?) p.(Pro457Ser) Unknown - likely benign g.17603075C>T - PADI3(NM_016233.2):c.1369C>T (p.(Pro457Ser)) - PADI3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1732A>T r.(?) p.(Lys578*) Parent #2 - pathogenic g.17607262A>T g.17280767A>T - - PADI3_000001 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0002 - - Germline - - - - - DNA SEQ - - UHS 27866708-Pat9 PubMed: Basmanav 2016, Journal: Basmanav 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - 1 Johan den Dunnen
?/. - c.1805C>G r.(?) p.(Pro602Arg) Unknown - VUS g.17609384C>G g.17282889C>G PADI3(NM_016233.2):c.1805C>G (p.(Pro602Arg)) - PADI3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1806del r.(?) p.(Phe603LeufsTer88) Unknown - VUS g.17609385del g.17282890del PADI3(NM_016233.2):c.1804delC (p.(Phe603LeufsTer88)) - PADI3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.1813C>A r.(?) p.(Pro605Thr) Parent #2 - pathogenic g.17609392C>A g.17282897C>A - - PADI3_000002 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0003 - rs144944758 Germline - - - - - DNA SEQ - - UHS 27866708-Pat7 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 16 c.1813C>A r.(?) p.(Pro605Thr) Parent #2 - pathogenic g.17609392C>A g.17282897C>A - - PADI3_000002 - PubMed: Basmanav 2016, Journal: Basmanav 2016, OMIM:var0003 - rs144944758 Germline - - - - - DNA SEQ - - UHS 27866708-Pat8 PubMed: Basmanav 2016, Journal: Basmanav 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1813C>A r.(?) p.(Pro605Thr) Unknown - pathogenic g.17609392C>A g.17282897C>A PADI3(NM_016233.2):c.1813C>A (p.(Pro605Thr)) - PADI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1885A>G r.(?) p.(Thr629Ala) Unknown - likely benign g.17609464A>G - PADI3(NM_016233.2):c.1885A>G (p.(Thr629Ala)) - PADI3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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