Full data view for gene ZDHHC9

Information The variants shown are described using the NM_016032.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
Legend   How to query  

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.-204+6G>T r.(=) p.(=) Unknown - likely benign g.128977666C>A g.129843690C>A ZDHHC9(NM_016032.3):c.-204+6G>T (p.(=)), ZDHHC9(NM_016032.4):c.-204+6G>T - ZDHHC9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-204+6G>T r.(=) p.(=) Unknown - likely benign g.128977666C>A g.129843690C>A ZDHHC9(NM_016032.3):c.-204+6G>T (p.(=)), ZDHHC9(NM_016032.4):c.-204+6G>T - ZDHHC9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-204+7A>G r.(=) p.(=) Unknown - likely benign g.128977665T>C g.129843689T>C ZDHHC9(NM_001008222.2):c.-566A>G (p.(=)) - ZDHHC9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-204+16_-204+17dup r.(=) p.(=) Unknown - VUS g.128977658_128977659dup g.129843682_129843683dup ZDHHC9(NM_016032.4):c.-204+16_-204+17dupGG - ZDHHC9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-204+17dup r.(=) p.(=) Unknown - likely benign g.128977659dup - ZDHHC9(NM_016032.4):c.-204+17dupG - ZDHHC9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.145T>C r.(?) p.(Cys49Arg) Maternal (confirmed) - pathogenic g.128975777A>G g.129841801A>G ZDHHC9 C49R - ZDHHC9_000018 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU3 PubMed: Hu 2016 family, 5 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - 5 Johan den Dunnen
+/. - c.167+5G>C r.28_167del p.Thr11Profs833 Maternal (confirmed) - pathogenic (recessive) g.128975750C>G - - - ZDHHC9_000035 - PubMed: Raymond 2007 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - ID Fam502 PubMed: Raymond 2007 2-generation family, 2 affected males, unaffected heterozygous carrier mother M - - - - 0 - - 2 Johan den Dunnen
-/. - c.167+10G>A r.(=) p.(=) Unknown - benign g.128975745C>T g.129841769C>T ZDHHC9(NM_001008222.2):c.167+10G>A - ZDHHC9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.172_175dup r.(?) p.(Tyr59Serfs*33) Parent #1 - VUS g.128963110_128963113dup g.129829134_129829137dup - - ZDHHC9_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377144-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.172_175dup r.(?) p.(Tyr59Serfs*33) Maternal (confirmed) - pathogenic (recessive) g.128963110_128963113dup g.129829134_129829137dup 172_175dupCGCT - ZDHHC9_000001 - PubMed: Raymond 2007 - - Germline yes - - 0 - DNA SEQ - - ID Fam152 PubMed: Raymond 2007 3-generation family, 3 affected males, unaffected heterozygous carrier mother M - - - - 0 - - 3 Johan den Dunnen
+?/? 4 c.286C>T r.(?) p.(Arg96Trp) Maternal (confirmed) - likely pathogenic (recessive) g.128962999G>A g.129829023G>A - - ZDHHC9_000004 - PubMed: Tzschach 2015 - - Germline - - - 0 - DNA SEQ - - MRX;IDX Fam13 PubMed: Tzschach 2015 family, 4 affected males M - Turkey ? - 0 - - 4 Andreas Tzschach
+/. 4 c.286C>T r.(?) p.(Arg96Trp) Unknown - pathogenic g.128962999G>A g.129829023G>A - - ZDHHC9_000004 - PubMed: Han 2018 - - De novo - - - 0 - DNA SEQ-NG-I - - MRXSR 30631761-Pat46_S11 PubMed: Han 2018 - M no Korea - - 0 - - 1 Joonhong Park
+/. - c.286C>T r.(?) p.(Arg96Trp) Unknown - pathogenic (dominant) g.128962999G>A - - - ZDHHC9_000004 variant not in 622 Korean individuals PubMed: Han 2017 - - De novo - - - 0 - DNA SEQ - TruSight One Sequencing Panel ID patient PubMed: Han 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - 0 - - 1 Johan den Dunnen
-?/. - c.324G>A r.(?) p.(Glu108=) Unknown - likely benign g.128962961C>T - ZDHHC9(NM_001008222.3):c.324G>A (p.E108=) - ZDHHC9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.361C>T r.(?) p.(Arg121Ter) Unknown - likely pathogenic g.128957781G>A g.129823805G>A - - ZDHHC9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.442C>T r.(?) p.(Arg148Trp) Parent #1 - VUS g.128957700G>A g.129823724G>A - - ZDHHC9_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377145-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.442C>T r.(?) p.(Arg148Trp) Unknown - likely pathogenic g.128957700G>A g.129823724G>A - - ZDHHC9_000002 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs137852214 Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411590 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.442C>T r.(?) p.(Arg148Trp) Maternal (confirmed) - pathogenic (recessive) g.128957700G>A - - - ZDHHC9_000002 - PubMed: Raymond 2007 - - Germline yes - - 0 - DNA SEQ - - ID Fam031 PubMed: Raymond 2007 2-generation family, 2 affected males, unaffected heterozygous carrier mother M - - - - 0 - - 2 Johan den Dunnen
+/. - c.442C>T r.(?) p.(Arg148Trp) Unknown - pathogenic (recessive) g.128957700G>A - - - ZDHHC9_000002 - PubMed: Schirwani 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES ID DECIPHER:273862-Pat4 PubMed: Schirwani 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/? 5 c.448C>T r.(?) p.(Pro150Ser) Parent #1 - VUS g.128957694G>A g.129823718G>A - - ZDHHC9_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377146-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.448C>T r.(?) p.(Pro150Ser) Maternal (confirmed) - pathogenic (recessive) g.128957694G>A - - - ZDHHC9_000003 - PubMed: Raymond 2007 - - Germline yes - - 0 - DNA SEQ - - ID Fam576 PubMed: Raymond 2007 4-generation family, 4 affected males, 3 unaffected heterozygous carrier females M - - - - 0 - - 4 Johan den Dunnen
+?/. - c.487+5_487+19del r.spl p.? Unknown ACMG likely pathogenic g.128957636_128957650del g.129823660_129823674del - - ZDHHC9_000032 ACMG PVS1,PM3 PubMed: Anazi 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - WES ID 14DG2158 PubMed: Anazi 2017 familial M - - - - 0 - - 1 Johan den Dunnen
?/. - c.487+15A>G r.(?) p.(=) Maternal (inferred) - VUS g.128957640T>C g.129823664T>C - - ZDHHC9_000005 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.487+15A>G r.(?) p.(=) Maternal (inferred) - VUS g.128957640T>C g.129823664T>C - - ZDHHC9_000005 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.487+15A>G r.(=) p.(=) Unknown - benign g.128957640T>C g.129823664T>C ZDHHC9(NM_001008222.3):c.487+15A>G - ZDHHC9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.487+15A>G r.(=) p.(=) Unknown - benign g.128957640T>C g.129823664T>C ZDHHC9(NM_001008222.3):c.487+15A>G - ZDHHC9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.488-124del r.(=) p.(=) Unknown - VUS g.128948897del g.129814921del - - ZDHHC9_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.488-124del r.(=) p.(=) Unknown - VUS g.128948897del g.129814921del - - ZDHHC9_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.488-122A>G r.(=) p.(=) Maternal (inferred) - VUS g.128948893T>C g.129814917T>C - - ZDHHC9_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.488-17C>T r.(=) p.(=) Unknown - likely benign g.128948788G>A g.129814812G>A ZDHHC9(NM_001008222.3):c.488-17C>T - ZDHHC9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _6_ c.(487+1_488-125)_(675-171_675-1)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(128946797_128946967)_(128948896_128957654)del - chrX: 128946967–128948896del - ZDHHC9_000036 - PubMed: Schirwani 2018, Balasubramanian 2020 in OMIM:var0006 - - Germline yes - - 0 - DNA arrayCGH - - ID Fam1PatIII3/Iv3/IV4 PubMed: Schirwani 2018 4-generation family, 3 affected, 2 unaffected heterozygous females M - - - - 0 - - 3 Johan den Dunnen
-?/. - c.621C>T r.(?) p.(Ala207=) Unknown - likely benign g.128948638G>A - ZDHHC9(NM_016032.4):c.621C>T (p.A207=) - ZDHHC9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625+123A>G r.(=) p.(=) Maternal (inferred) - VUS g.128948511T>C g.129814535T>C - - ZDHHC9_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.625+123A>G r.(=) p.(=) Maternal (inferred) - VUS g.128948511T>C g.129814535T>C - - ZDHHC9_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.674+9C>T r.(=) p.(=) Unknown - benign g.128947644G>A g.129813668G>A ZDHHC9(NM_001008222.2):c.674+9C>T, ZDHHC9(NM_001008222.3):c.674+9C>T - ZDHHC9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674+9C>T r.(=) p.(=) Unknown - likely benign g.128947644G>A - ZDHHC9(NM_001008222.2):c.674+9C>T, ZDHHC9(NM_001008222.3):c.674+9C>T - ZDHHC9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.777+1G>T r.spl p.? Unknown ACMG pathogenic g.128946693C>A - - - ZDHHC9_000034 - - - - Germline - - - 0 - DNA SEQ-NG - - MRXSR - - - M no Brazil - - - - - 1 Juliana Mazzeu
+?/. - c.878_879insA r.(?) p.(Ser294Glnfs*26) Unknown - likely pathogenic g.128945384_128945385insT g.129811408_129811409insT - - ZDHHC9_000031 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410704 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.892C>T r.(?) p.(Arg298Ter) Unknown - pathogenic g.128944967G>A g.129810991G>A - - ZDHHC9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.892C>T r.(?) p.(Arg298*) Maternal (confirmed) - pathogenic g.128944967G>A g.129810991G>A ZDHHC9 R298* - ZDHHC9_000017 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP148 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 3 Johan den Dunnen
+?/. - c.892C>T r.(?) p.(Arg298*) Unknown - likely pathogenic g.128944967G>A g.129810991G>A - - ZDHHC9_000017 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410775 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.975C>T r.(?) p.(Ser325=) Unknown - likely benign g.128944884G>A g.129810908G>A ZDHHC9(NM_001008222.3):c.975C>T (p.S325=) - ZDHHC9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.978+15C>T r.(=) p.(=) Unknown - likely benign g.128944866G>A g.129810890G>A ZDHHC9(NM_001008222.3):c.978+15C>T - ZDHHC9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1045C>T r.(?) p.(Pro349Ser) Unknown - likely benign g.128940396G>A g.129806420G>A ZDHHC9(NM_001008222.2):c.1045C>T (p.P349S) - ZDHHC9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1042del r.(=) p.(=) Unknown - VUS g.128939304del g.129805328del - - ZDHHC9_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1388A>G r.(=) p.(=) Maternal (inferred) - VUS g.128938958T>C g.129804982T>C - - ZDHHC9_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1388A>G r.(=) p.(=) Maternal (inferred) - VUS g.128938958T>C g.129804982T>C - - ZDHHC9_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend   How to query