Full data view for gene DNAJC5

An NCL gene variant database
Information The variants shown are described using the NM_025219.2 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     
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic g.62562228_62562230del g.63930875_63930877del 346_348delCTC - DNAJC5_000002 - PubMed: Noskova 2011 - - Germline yes - - - - DNA SEQ - - CLN4B 21820099-FamP1 PubMed: Noskova 2011 4-generation family, 9 affecteds (6F, 3M) F no Czech Republic - - - - - 9 Sara Mole
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic g.62562228_62562230del g.63930875_63930877del 346_348delCTC - DNAJC5_000002 - PubMed: Noskova 2011 - - Germline yes - - - - DNA SEQ - - CLN4B 21820099-FamUCL519 PubMed: Noskova 2011 - M no United States - - - - - 1 Sara Mole
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic g.62562228_62562230del g.63930875_63930877del 346_348delCTC - DNAJC5_000002 - PubMed: Velinov 2012, Journal: Velinov 2012 - - Germline yes - - - - DNA SEQ - - CLN4B 22235333-FamParry PubMed: Boehme 1971, PubMed: Velinov 2012, Journal: Velinov 2012 7-generation family, 22 affecteds (13F, 9M) F;M no United States - - - - - 22 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV2 PubMed: Cadieux-Dion 2013 7-generation family, family, 22 affected, PatIV2 - - United States United Kingdom 39y - - - 22 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV4 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 41y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV8 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 53y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV10 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 44y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV11 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 48y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV12 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 42y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatV2 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom - - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatV3 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 47y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatV8 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 46y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatV12 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 40y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatV14 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 47y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatV16 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom 45y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatV19 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom >48y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatVI2 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom >49y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatVI5 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom >33y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatVII1 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom >31y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV18 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom - - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam1PatIV19 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom - - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam2PatV7 PubMed: Cadieux-Dion 2013 7-generation family, family, 13 affected (7F, 6M), PatIV2 - - United States United Kingdom 47y - - - 13 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam2PatV9 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom - - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del - - DNAJC5_000002 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam2PatVI7 PubMed: Cadieux-Dion 2013 - - - United States United Kingdom >29y - - - 1 Johan den Dunnen
+/. 4 c.346_348del r.(?) p.(Leu116del) Parent #1 - pathogenic (dominant) g.62562228_62562230del g.63930875_63930877del 346_348delCTC - DNAJC5_000002 - PubMed: Jarrett 2018 - - Germline yes - - - - DNA SEQ - - CLN Family PubMed: Jarrett 2018 4-generation family, 4 affected (3F, M) F;M no United States - - - - - 4 Johan den Dunnen
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