Full data view for gene PLCZ1

Information The variants shown are described using the NM_033123.3 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.136-1G>C r.spl p.? Unknown - pathogenic (dominant) g.18876477C>G g.18723543C>G - - PLCZ1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - HYDM - - - M ? - - - - - - 1 Björn Heindryckx
+/. - c.136G>A r.(?) p.(Asp46Asn) Unknown - pathogenic (dominant) g.18876476C>T g.18723542C>T - - PLCZ1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - HYDM - - - M ? - - - - - - 1 Björn Heindryckx
?/. 4 c.360C>G r.(?) p.(Ile120Met) Parent #1 - VUS g.18876252G>C g.18723318G>C - - PLCZ1_000013 - PubMed: Torra-Massana 2019 - rs79487790 Germline - - - - - DNA SEQ - - INFM P30 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.588C>A r.(?) p.(Cys196*) Both (homozygous) - pathogenic (recessive) g.18865902G>T - C588A - PLCZ1_000006 - PubMed: Dai 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SPGF Pat1 PubMed: Dai 2020 3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes China - - - - - 1 Johan den Dunnen
+/. 6 c.590G>A r.(?) p.(Arg197His) Parent #1 - VUS g.18865900C>T g.18712966C>T - - PLCZ1_000012 - PubMed: Torra-Massana 2019 - rs781075636 Germline - - - - - DNA SEQ - - INFM P5 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 6 c.671T>C r.(?) p.(Leu224Pro) Parent #1 - VUS g.18865819A>G g.18712885A>G - - PLCZ1_000011 - PubMed: Torra-Massana 2019 - rs144902254 Germline - - - - - DNA SEQ - - INFM P26 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.698A>T r.(?) p.(His233Leu) Unknown - pathogenic (dominant) g.18865792T>A g.18712858T>A - - PLCZ1_000005 - - - - Germline ? - - - - DNA SEQ - - HYDM - - - M ? - - - - - - 1 Björn Heindryckx
+/. - c.698A>T r.(?) p.(His233Leu) Maternal (confirmed) - pathogenic (recessive) g.18865792T>A - - - PLCZ1_000005 - PubMed: Kashir 2012, PubMed: Kashir 2012 - - Germline - - - - - DNA SEQ - - INFM PatF PubMed: Heytens 2009, PubMed: Kashir 2012 3 generation family, 1 affected, unaffected heterozygous carrier parents (patient has daughter) M - - - - - - - 1 Johan den Dunnen
+/. 6 c.698A>T r.(?) p.(His233Leu) Parent #1 - VUS g.18865792T>A g.18712858T>A - - PLCZ1_000005 - PubMed: Torra-Massana 2019 - rs200061726 Germline - - - - - DNA SEQ - - INFM P8 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.736C>T r.(?) p.(Leu246Phe) Both (homozygous) - pathogenic (recessive) g.18858228G>A - C736T - PLCZ1_000008 - PubMed: Dai 2020 - - Germline yes - - - - DNA SEQ-NG - WES SPGF Pat3 PubMed: Dai 2020 2 generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes China - - - - - 2 Johan den Dunnen
+/. 9 c.972_973del r.(?) p.(Val326LysfsTer25) Parent #1 - VUS g.18854479_18854480del g.18701545_18701546del 972_973delAG - PLCZ1_000010 - PubMed: Torra-Massana 2019 - rs777169092 Germline - - - - - DNA SEQ - - INFM P12 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1048T>C r.(?) p.(Ser350Pro) Both (homozygous) - pathogenic (recessive) g.18852854A>G - T1048C - PLCZ1_000007 - PubMed: Dai 2020 - - Germline - - - - - DNA SEQ-NG - WES SPGF Pat2 PubMed: Dai 2020 3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes China - - - - - 1 Johan den Dunnen
+?/. - c.1154G>A r.(1154G>A) p.(Arg385Gln) Both (homozygous) ACMG VUS g.18852748C>T g.18699814C>T - - PLCZ1_000014 - - - rs758890842 Germline yes - - - - DNA SEQ, SEQ-NG Whole blood WES (whole exome sequencing) INF 2103_Case8 - - M yes Egypt - - - - - 1 Rima Slim
+/. - c.1193A>C r.(?) p.(His398Pro) Paternal (confirmed) - pathogenic (recessive) g.18849182T>G - - - PLCZ1_000009 - PubMed: Heytens 2009, PubMed: Kashir 2011, PubMed: Kashir 2012, PubMed: Kashir 2012 - - Germline - - - - - DNA SEQ - - INFM PatF PubMed: Heytens 2009, PubMed: Kashir 2012 3 generation family, 1 affected, unaffected heterozygous carrier parents (patient has daughter) M - - - - - - - 1 Johan den Dunnen
+/. - c.1465A>T r.(?) p.(Ile489Phe) Both (homozygous) - pathogenic (recessive) g.18841149T>A g.18688215T>A - - PLCZ1_000001 - PubMed: Escoffier 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SPGF Fam PubMed: Escoffier 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents (first-cousin)/relatives M yes Tunisia - - - - - 1 Johan den Dunnen
?/. - c.1499C>T r.(?) p.(Ser500Leu) Unknown - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - - - - Germline ? - - - - DNA SEQ-NG-I - - HYDM - - - M ? - - - - - - 1 Björn Heindryckx
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #1 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P22 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #1 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P24 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #1 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P27 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #1 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P28 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Both (homozygous) - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P29 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #1 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P32 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #1 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P36 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #1 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P37 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
?/. 13 c.1499C>T r.(?) p.(Ser500Leu) Parent #2 - VUS g.18841115G>A g.18688181G>A - - PLCZ1_000002 - PubMed: Torra-Massana 2019 - rs10505830 Germline - - - - - DNA SEQ - - INFM P5 PubMed: Torra-Massana 2019 - - - Spain - - - - - 1 Johan den Dunnen
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