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.

48 entries on 1 page. Showing entries 1 - 48.
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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.-12+11115C>T r.(=) p.(=) Unknown - likely benign g.62537791C>T - DNAJC5(NM_025219.3):c.-12+11115C>T - DNAJC5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107+10C>T r.(=) p.(=) Unknown - likely benign g.62559815C>T g.63928462C>T DNAJC5(NM_025219.2):c.107+10C>T, DNAJC5(NM_025219.3):c.107+10C>T - DNAJC5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107+10C>T r.(=) p.(=) Unknown - likely benign g.62559815C>T g.63928462C>T DNAJC5(NM_025219.2):c.107+10C>T, DNAJC5(NM_025219.3):c.107+10C>T - DNAJC5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132C>T r.(?) p.(Pro44=) Unknown - likely benign g.62560689C>T - DNAJC5(NM_025219.3):c.132C>T (p.P44=) - DNAJC5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153G>T r.(?) p.(Pro51=) Unknown - likely benign g.62560710G>T - DNAJC5(NM_025219.3):c.153G>T (p.P51=) - DNAJC5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189G>A r.(?) p.(Ala63=) Unknown - likely benign g.62560746G>A g.63929393G>A DNAJC5(NM_025219.3):c.189G>A (p.A63=) - DNAJC5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282C>T r.(?) p.(Asn94=) Unknown - likely benign g.62560839C>T g.63929486C>T DNAJC5(NM_025219.2):c.282C>T (p.N94=) - DNAJC5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321+20C>T r.(=) p.(=) Unknown - benign g.62560898C>T g.63929545C>T DNAJC5(NM_025219.2):c.321+20C>T, DNAJC5(NM_025219.3):c.321+20C>T - DNAJC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321+20C>T r.(=) p.(=) Unknown - benign g.62560898C>T - DNAJC5(NM_025219.2):c.321+20C>T, DNAJC5(NM_025219.3):c.321+20C>T - DNAJC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321+38A>T r.(=) p.(=) Unknown - benign g.62560916A>T g.63929563A>T DNAJC5(NM_025219.3):c.321+38A>T - DNAJC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.322-10C>T r.(=) p.(=) Unknown - benign g.62562194C>T g.63930841C>T DNAJC5(NM_025219.2):c.322-10C>T, DNAJC5(NM_025219.3):c.322-10C>T - DNAJC5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.322-10C>T r.(=) p.(=) Unknown - benign g.62562194C>T - DNAJC5(NM_025219.2):c.322-10C>T, DNAJC5(NM_025219.3):c.322-10C>T - DNAJC5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.344T>G r.(?) p.(Leu115Arg) Parent #1 - pathogenic g.62562226T>G g.63930873T>G - - DNAJC5_000001 - PubMed: Noskova 2011 - - Germline yes - - - - DNA SEQ - - CLN4B 21820099-FamN1 PubMed: Nijssen 2002, PubMed: Nijssen 2009, PubMed: Nijssen 2003 - - no Netherlands - - - - - 1 Sara Mole
+/. 4 c.344T>G r.(?) p.(Leu115Arg) Parent #1 - pathogenic g.62562226T>G g.63930873T>G - - DNAJC5_000001 - PubMed: Noskova 2011 - - Germline yes - - - - DNA SEQ - - CLN4B 21820099-FamUCL563 PubMed: Josephson 2001 - - no United States English - - - - 1 Sara Mole
+/. 4 c.344T>G r.(?) p.(Leu115Arg) Parent #1 - pathogenic g.62562226T>G g.63930873T>G - - DNAJC5_000001 - PubMed: Noskova 2011 - - Germline yes - - - - DNA SEQ - - CLN4B 21820099-FamUCL328 PubMed: Noskova 2011 - M no United States French-Canadian - - - - 1 Sara Mole
+/. 4 c.344T>G r.(?) p.(Leu115Arg) Parent #1 - pathogenic g.62562226T>G g.63930873T>G - - DNAJC5_000001 not in 2,100 controls PubMed: Velinov 2012, Journal: Velinov 2012 - - Germline - - - - - DNA SEQ - - CLN4B 22235333_FamBD319 PubMed: Velinov 2012, Journal: Velinov 2012 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.344T>G r.(?) p.(Leu115Arg) Parent #1 - pathogenic (dominant) g.62562226T>G g.63930873T>G - - DNAJC5_000001 - PubMed: Cadieux-Dion 2013 - - Germline - - - - - DNA SEQ - - CLN Fam3Pat PubMed: Cadieux-Dion 2013 - - - United States - 58y - - - 1 Johan den Dunnen
+/. 4 c.344T>G r.(?) p.(Leu115Arg) Parent #1 - pathogenic (dominant) g.62562226T>G g.63930873T>G - - DNAJC5_000001 - PubMed: Benitez 2011 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CLN Family PubMed: Benitez 2011 7-generation family, 10 affected - - United States - - - - - 1 Johan den Dunnen
+/. 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
-?/. - c.493+10C>T r.(=) p.(=) Unknown - likely benign g.62562385C>T g.63931032C>T DNAJC5(NM_025219.2):c.493+10C>T - DNAJC5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.493+22C>T r.(=) p.(=) Unknown - benign g.62562397C>T g.63931044C>T DNAJC5(NM_025219.3):c.493+22C>T - DNAJC5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546C>T r.(?) p.(Thr182=) Unknown - likely benign g.62562870C>T - DNAJC5(NM_025219.2):c.546C>T (p.T182=) - DNAJC5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558C>T r.(?) p.(=) Unknown - likely benign g.62562882C>T - DNAJC5(NM_025219.3):c.558C>T (p.A186=) - DNAJC5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4300C>T r.(=) p.(=) Parent #1 - likely benign g.62567221C>T g.63935868C>T - - DNAJC5_000010 52 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41278224 Germline - 52/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 52 Mohammed Faruq
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