Full data view for gene PADI6

Information The variants shown are described using the NM_207421.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.= r.(?) p.(=) Maternal (confirmed) - benign (!) g.= g.= - - PADI6_000000 mother carries variants affecting embryonic imprinting PubMed: Begemann 2018 - - Germline - - - - - DNA SEQ-NG - - MLID Fam11Pat PubMed: Begemann 2018 son M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.(?) p.(=) Maternal (confirmed) - benign (!) g.= g.= - - PADI6_000000 mother carries variants affecting embryonic imprinting PubMed: Begemann 2018 - - Germline - - - - - DNA SEQ-NG - - MLID Fam12Pat PubMed: Begemann 2018 son M - Germany - - - - - 1 Johan den Dunnen
+/. - c.367G>T r.(?) p.(Glu123Ter) Unknown ACMG likely pathogenic g.17701994G>T g.17375499G>T - - PADI6_000020 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - PREMBL - - - F - - - - - - - 1 Changlong Zhang
+/. - c.433A>G r.(?) p.(Lys145Glu) Parent #1 - pathogenic (!) g.17706480A>G g.17379985A>G - - PADI6_000012 variant affects embryonic imprinting PubMed: Begemann 2018 - - Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam12 PubMed: Begemann 2018 mother of affected child F - - - - - - - 2 Johan den Dunnen
+/. - c.554-2A>G r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.17708460A>G g.17381965A>G - - PADI6_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - PREMBL - - - - - - - - - - - 1 Changlong Zhang
+/. - c.554-2A>G r.spl p.? Paternal (inferred) ACMG likely pathogenic g.17708460A>G g.17381965A>G - - PADI6_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - PREMBL - - - F - - - - - - - 1 Changlong Zhang
+?/. 6 c.633T>A r.(?) p.(His211Gln) Maternal (confirmed) - pathogenic (recessive) g.17708541T>A g.17382046T>A - - PADI6_000005 - PubMed: Xu 2016, Journal: Xu 2016 - - Germline - - - - - DNA SEQ - - PREMBL 27545678-Fam2 PubMed: Xu 2016, Journal: Xu 2016 1-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+/. - c.902G>A r.(?) p.(Arg301Gln) Parent #1 - pathogenic (!) g.17715315G>A g.17388820G>A - - PADI6_000009 variant affects embryonic imprinting PubMed: Begemann 2018 - rs755969432 Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam9 PubMed: Begemann 2018 mother of affected child; no DNA child F - - - - - - - 2 Johan den Dunnen
+?/. - c.902G>T r.(?) p.(Arg301Leu) Maternal (confirmed) ACMG VUS g.17715315G>T g.17388820G>T - - PADI6_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - PREMBL - - - - - - - - - - - 1 Changlong Zhang
+/. 9 c.970C>T r.(?) p.(Gln324*) Maternal (confirmed) - pathogenic (recessive) g.17718616C>T g.17392121C>T - - PADI6_000007 - PubMed: Xu 2016, Journal: Xu 2016 - - Germline - - - - - DNA SEQ - - PREMBL 27545678-Fam3 PubMed: Xu 2016, Journal: Xu 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+/. - c.1046A>G r.(?) p.(Asp349Gly) Parent #1 - pathogenic (!) g.17718693A>G g.17392197A>G - - PADI6_000013 variant affects embryonic imprinting PubMed: Begemann 2018 - - Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam11 PubMed: Begemann 2018 mother of affected child F - - - - - - - 2 Johan den Dunnen
+/. - c.1124T>C r.(?) p.(Leu375Ser) Parent #1 - pathogenic (!) g.17720520T>C g.17394024T>C - - PADI6_000014 variant affects embryonic imprinting PubMed: Begemann 2018 - - Germline/De novo (untested) - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam10 PubMed: Begemann 2018 mother of affected child F - - - - - - - 2 Johan den Dunnen
+/. - c.1130del r.(?) p.(Leu377ProfsTer14) Paternal (inferred) ACMG likely pathogenic g.17720526del g.17394030del - - PADI6_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - PREMBL - - - - - - - - - - - 1 Changlong Zhang
+/. 10 c.1141C>T r.(?) p.(Gln381*) Both (homozygous) - pathogenic (recessive) g.17720537C>T g.17394041C>T - - PADI6_000003 - PubMed: Xu 2016, Journal: Xu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES PREMBL 27545678-Fam1PatIV5 PubMed: Xu 2016, Journal: Xu 2016 3-generation family, 3 affected sisters (3F), unaffected heterozygous carrier parents/sibs, homozygous brother F yes China - - - - - 3 Johan den Dunnen
+?/. - c.1244C>A r.(?) p.(Ser415Tyr) Maternal (confirmed) ACMG VUS g.17720857C>A g.17394361C>A - - PADI6_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - PREMBL - - - - - - - - - - - 1 Changlong Zhang
+/. - c.1298C>T r.(?) p.(Pro433Leu) Parent #2 - pathogenic (!) g.17720911C>T g.17394415C>T - - PADI6_000010 variant affects embryonic imprinting PubMed: Begemann 2018 - rs759006424 Germline - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam9 PubMed: Begemann 2018 mother of affected child; no DNA child F - - - - - - - 2 Johan den Dunnen
+/. - c.1388C>T r.(?) p.(Gln463Ter) Unknown ACMG likely pathogenic (recessive) g.17721496C>T g.17395000C>T - - PADI6_000021 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - PREMBL - - - F - - - - - - - 1 Changlong Zhang
+?/. - c.1403C>T r.(?) p.(Pro468Leu) Maternal (confirmed) ACMG VUS g.17721512C>T g.17395016C>T - - PADI6_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - PREMBL - - - F - - - - - - - 1 Changlong Zhang
+?/. 13 c.1618G>A r.(?) p.(Gly540Arg) Paternal (confirmed) - pathogenic (recessive) g.17722159G>A g.17395663G>A - - PADI6_000006 - PubMed: Xu 2016, Journal: Xu 2016 - - Germline - - - - - DNA SEQ - - PREMBL 27545678-Fam3 PubMed: Xu 2016, Journal: Xu 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
?/. - c.1639G>A r.(?) p.(Asp547Asn) Maternal (confirmed) - VUS (!) g.17723587G>A g.17397091G>A - - PADI6_000011 variant may affect embryonic imprinting PubMed: Begemann 2018 - rs150981529 Germline - - - - multilocus imprinting disturbances; hypomethylation KCNQ1OT1, GRB10, H19, MEST, IGF2R, IGF1R DNA SEQ-NG - - MLID Fam10Pat PubMed: Begemann 2018 son M - - - - - - - 1 Johan den Dunnen
?/. - c.1639G>A r.(?) p.(Asp547Asn) Parent #2 - VUS (!) g.17723587G>A g.17397091G>A - - PADI6_000011 variant may affect embryonic imprinting PubMed: Begemann 2018 - rs150981529 Germline - - - - normal epigenotype DNA SEQ, SEQ-NG - WES MLID Fam10 PubMed: Begemann 2018 mother of affected child F - - - - - - - 2 Johan den Dunnen
+/. 16 c.1793A>G r.(?) p.(Asn598Ser) Parent #1 - pathogenic (recessive) g.17725285A>G - chr1:17725285 - PADI6_000001 - - - - Germline yes - - - - DNA SEQ-NG blood - ? 1469 - 3-generation family, one affected (F), unaffected heterozygous carrier parents F - China - - - - - 1 Maryam Rezaei
+/. 16 c.2009_2010del r.(?) p.(Glu670Glyfs*48) Paternal (confirmed) - pathogenic (recessive) g.17727858_17727859del g.17401362_17401363del delAG - PADI6_000004 - PubMed: Xu 2016, Journal: Xu 2016 - - Germline - - - - - DNA SEQ - - PREMBL 27545678-Fam2 PubMed: Xu 2016, Journal: Xu 2016 1-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+/. 17 c.2045G>A r.(?) p.(Arg682Gln) Parent #2 - pathogenic (recessive) g.17727894G>A g.17401398G>A - - PADI6_000002 - - - - Germline yes - - - - DNA SEQ-NG blood - ? 1469 - 3-generation family, one affected (F), unaffected heterozygous carrier parents F - China - - - - - 1 Maryam Rezaei
+?/. - c.2069G>A r.(?) p.(Trp690*) Unknown - VUS g.17727918G>A g.17401422G>A - - PADI6_000008 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG lymphocytes - BWS 14218 - - F no Germany - - - - - 1 Thomas Eggermann
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