Full data view for gene DNAJB11

Information The variants shown are described using the NM_016306.4 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.68+1G>A r.spl? p.? Unknown - pathogenic g.186288755G>A - DNAJB11(NM_016306.5):c.68+1G>A - DNAJB11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.70C>T r.(?) p.(Arg24*) Unknown - pathogenic g.186289885C>T - DNAJB11(NM_016306.5):c.70C>T (p.R24*) - DNAJB11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110C>T r.(?) p.(Ser37Phe) Unknown - VUS g.186289925C>T - - - DNAJB11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.161C>G r.(?) p.(Pro54Arg) Maternal (confirmed) - pathogenic g.186289976C>G g.186572187C>G - - DNAJB11_000001 - PubMed: Cornec-Le Gall 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ADPKD 29706351-Fam1 PubMed: Cornec-Le Gall 2018 3-generation family, 3 affecteds (3F) F no - - - - - - 3 Johan den Dunnen
+/. 2 c.166_167insTT r.(?) p.(Arg56Leufs*40) Parent #1 - pathogenic g.186289981_186289982insTT g.186572192_186572193insTT - - DNAJB11_000002 - PubMed: Cornec-Le Gall 2018 - - Germline yes - - - - DNA SEQ - - ADPKD 29706351-Fam2 PubMed: Cornec-Le Gall 2018 2-generation family, 4 affecteds (3F, M) F;M no - - - - - - 4 Johan den Dunnen
-?/. - c.226-3C>T r.spl? p.? Unknown - likely benign g.186293626C>T - DNAJB11(NM_016306.5):c.226-3C>T - DNAJB11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.230T>C r.(?) p.(Leu77Pro) Parent #1 - pathogenic g.186293633T>C g.186575844T>C - - DNAJB11_000004 - PubMed: Cornec-Le Gall 2018 - - Germline - - - - - DNA SEQ - - ADPKD 29706351-Fam4 PubMed: Cornec-Le Gall 2018 2-generation family, 2 affecteds (F, M) F;M no - - - - - - 2 Johan den Dunnen
-/. - c.323+19T>C r.(=) p.(=) Unknown - benign g.186293745T>C - DNAJB11(NM_016306.5):c.323+19T>C - DNAJB11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.456+609T>C r.[456_457ins[456+565_456+608;c;456+610_456+620],456_457ins[457-1490_457-1267],456_457ins[456+185_456+267;456+565_456+608;c;456+610_456+620],456_457ins[456+565_456+608;c;456+610_456+620;457-1490_457-1267],457_460delins[456+565_456+608;c;456+610_456+620]] p.[Val154Glnfs*19,Val153Phefs*11,Val153Leufs*4,Val154Glnfs*53,Val154Glnfs*19] Both (homozygous) - likely pathogenic (recessive) g.186296198T>C g.186578409T>C - - DNAJB11_000018 pseudo-exon activation; transcripts cycloheximide sensitive, cycloheximide sensitive, cycloheximide sensitive, cycloheximide sensitive, cycloheximide sensitive PubMed: Bournazos 2022 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA urothelial cells trio WES ? A168 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - 1 Johan den Dunnen
+?/. - c.457-20_457-15del r.(?) p.(?) Unknown - likely pathogenic g.186299140_186299145del - - - DNAJB11_000024 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.479del r.(?) p.(Ala160Glufs*28) Parent #1 - pathogenic g.186299182del g.186581393del 479delC - DNAJB11_000003 - PubMed: Cornec-Le Gall 2018 - - Germline yes - - - - DNA SEQ - - ADPKD 29706351-Fam3 PubMed: Cornec-Le Gall 2018 4-generation family, 6 affecteds (4F, 2M) F;M no - - - - - - 6 Johan den Dunnen
+/. - c.531del r.(?) p.(Thr178ProfsTer10) Unknown - pathogenic g.186299234del - DNAJB11(NM_016306.5):c.531delC (p.T178Pfs*10) - DNAJB11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.600-15T>G r.(=) p.(=) Unknown - VUS g.186299769T>G - DNAJB11(NM_016306.4):c.600-15T>G (p.(=)) - DNAJB11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.616C>T r.(?) p.(Arg206*) Parent #1 - pathogenic g.186299800C>T g.186582011C>T - - DNAJB11_000005 - PubMed: Cornec-Le Gall 2018 - - Germline yes - - - - DNA SEQ - - ADPKD 29706351-Fam5 PubMed: Cornec-Le Gall 2018 4-generation family, 5 affecteds (4F, M) F;M no - - - - - - 5 Johan den Dunnen
+/. 6 c.616C>T r.(?) p.(Arg206*) Parent #1 - pathogenic g.186299800C>T g.186582011C>T - - DNAJB11_000005 - PubMed: Cornec-Le Gall 2018 - - Germline - - - - - DNA SEQ - - ADPKD 29706351-Fam6 PubMed: Cornec-Le Gall 2018 3-generation family, 2 affecteds (F, M) F;M no - - - - - - 2 Johan den Dunnen
+/. 6 c.616C>T r.(?) p.(Arg206*) Unknown - pathogenic g.186299800C>T g.186582011C>T - - DNAJB11_000005 - PubMed: Cornec-Le Gall 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - ADPKD 29706351-Fam7 PubMed: Cornec-Le Gall 2018 2-generation family, affected female F no - - - - - - 1 Johan den Dunnen
+/. - c.616C>T r.(?) p.(Arg206*) Unknown - pathogenic g.186299800C>T - DNAJB11(NM_016306.5):c.616C>T (p.R206*), DNAJB11(NM_016306.6):c.616C>T (p.(Arg206*)) - DNAJB11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.616C>T r.(?) p.(Arg206*) Unknown - pathogenic g.186299800C>T - DNAJB11(NM_016306.5):c.616C>T (p.R206*), DNAJB11(NM_016306.6):c.616C>T (p.(Arg206*)) - DNAJB11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.683-8C>G r.(=) p.(=) Unknown - likely benign g.186300497C>G - DNAJB11(NM_016306.5):c.683-8C>G - DNAJB11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.724C>T r.(?) p.(Arg242*) Unknown - pathogenic g.186300546C>T - DNAJB11(NM_016306.5):c.724C>T (p.R242*) - DNAJB11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.748A>G r.(?) p.(Ile250Val) Unknown - likely benign g.186301661A>G - DNAJB11(NM_016306.5):c.748A>G (p.I250V) - DNAJB11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+13A>T r.(=) p.(=) Unknown - likely benign g.186302391A>T - DNAJB11(NM_016306.5):c.1012+13A>T - DNAJB11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+13_1012+14insTTGTGT r.(=) p.(=) Unknown - likely benign g.186302391_186302392insTTGTGT - DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGT - DNAJB11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+13_1012+14insTTGTGTGTGTGTGT r.(=) p.(=) Unknown - likely benign g.186302391_186302392insTTGTGTGTGTGTGT - DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGTGTGTGTGT - DNAJB11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+13_1012+14insTTGTGTGTGTGTGTGT r.(=) p.(=) Unknown - likely benign g.186302391_186302392insTTGTGTGTGTGTGTGT - DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGTGTGTGTGTGT - DNAJB11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGT r.(=) p.(=) Unknown - likely benign g.186302391_186302392insTTGTGTGTGTGTGTGTGTGTGTGT - DNAJB11(NM_016306.5):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGT - DNAJB11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+18_1012+33dup r.(=) p.(=) Unknown - likely benign g.186302396_186302411dup - DNAJB11(NM_016306.5):c.1012+14_1012+29dupGTGTGTGTGTGTGTGT - DNAJB11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+20_1012+33dup r.(=) p.(=) Unknown - likely benign g.186302398_186302411dup - DNAJB11(NM_016306.5):c.1012+14_1012+27dupGTGTGTGTGTGTGT - DNAJB11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+30_1012+33dup r.(=) p.(=) Unknown - likely benign g.186302408_186302411dup - DNAJB11(NM_016306.5):c.1012+30_1012+33dupGTGT - DNAJB11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1050G>C r.(?) p.(Lys350Asn) Unknown - VUS g.186303170G>C - - - DNAJB11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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