Full data view for gene DCDC2

Information The variants shown are described using the NM_016356.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+?/. 1 c.51G>C r.(?) p.(Lys17Asn) Both (homozygous) - likely pathogenic g.24357928C>G g.24357700C>G - - DCDC2_000004 - - - - Germline yes - - 0 - DNA SEQ-NG - - ? - - - M yes Morocco - - 0 - - 1 Muriel Girard
+/+ 1 c.121_122del r.(?) p.(Ser42Glnfs*72) Parent #1 - pathogenic g.24357857_24357858del g.24357629_24357630del - - DCDC2_000007 - MORL Deafness Variation Database, PubMed: Schueler 2015, PubMed: Schueler 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Schueler 2015, PubMed: Schueler 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.123_124del r.(?) p.(Ser42Glnfs*72) Maternal (confirmed) - pathogenic g.24357857_24357858del g.24357629_24357630del 123_124delGT - DCDC2_000002 - PubMed: Schueler 2015, Journal: Schueler 2015 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - NPHP-RC - PubMed: Schueler 2015, Journal: Schueler 2015 patient, unaffected heterozygous carrier parents - no Czech Republic - - 0 - - 1 Johan den Dunnen
-?/. - c.222C>A r.(?) p.(Ile74=) Unknown - likely benign g.24357757G>T g.24357529G>T DCDC2(NM_016356.4):c.222C>A (p.I74=) - DCDC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.294-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.24353853T>C g.24353625T>C - - DCDC2_000005 - - 502281 rs1554121105 Germline yes - - 0 - DNA SEQ-NG-I - - PFIC - - - - yes - - - 0 - - 1 Andreas Janecke
+/. 2i c.349-2A>G r.349_425del p.Val117Leufs*54 Paternal (confirmed) - pathogenic g.24302274T>C g.24302046T>C - - DCDC2_000003 - PubMed: Schueler 2015, Journal: Schueler 2015 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - NPHP-RC - PubMed: Schueler 2015, Journal: Schueler 2015 patient, unaffected heterozygous carrier parents - no Czech Republic - - 0 - - 1 Johan den Dunnen
+/+ 2i c.349-2A>G r.spl? p.? Parent #1 - pathogenic g.24302274T>C g.24302046T>C - - DCDC2_000003 - MORL Deafness Variation Database, PubMed: Schueler 2015, PubMed: Schueler 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Schueler 2015, PubMed: Schueler 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. 3i_4i c.(425+1_426-1)_(557+1_558-1)del r.(del) p.(Phe142_Arg186delinsLeu) Both (homozygous) - likely pathogenic g.(24291307_24301943)_(24302074_24302195)del - - - DCDC2_000000 - - - - Germline yes - - 0 - DNA SEQ-NG - - ? - - - F yes Morocco - - 0 - - 1 Muriel Girard
+/. 5 c.649A>T r.(?) p.(Lys217*) Both (homozygous) - pathogenic g.24291215T>A g.24290987T>A - - DCDC2_000001 homozygosity mapping, exome sequencing PubMed: Schueler 2015, Journal: Schueler 2015 - - Germline yes - - 0 - DNA arraySNP, SEQ, SEQ-NG - - NPHP-RC - PubMed: Schueler 2015, Journal: Schueler 2015 patient, unaffected heterozygous carrier parents ? yes United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/+ 5 c.649A>T r.(?) p.(Lys217*) Parent #1 - pathogenic g.24291215T>A g.24290987T>A - - DCDC2_000001 - MORL Deafness Variation Database, PubMed: Schueler 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Schueler 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.855A>G r.(?) p.(Ser285=) Unknown - likely benign g.24278344T>C g.24278116T>C DCDC2(NM_016356.4):c.855A>G (p.S285=), DCDC2(NM_016356.5):c.855A>G (p.S285=) - KAAG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855A>G r.(?) p.(Ser285=) Unknown - likely benign g.24278344T>C - DCDC2(NM_016356.4):c.855A>G (p.S285=), DCDC2(NM_016356.5):c.855A>G (p.S285=) - KAAG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208G>A r.(?) p.(Arg403His) Unknown - VUS g.24178676C>T - DCDC2(NM_016356.4):c.1208G>A (p.R403H) - KAAG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1219G>A r.(?) p.(Gly407Ser) Unknown - likely benign g.24178665C>T g.24178437C>T DCDC2(NM_016356.4):c.1219G>A (p.G407S) - KAAG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221C>G r.(?) p.(Gly407=) Unknown - likely benign g.24178663G>C g.24178435G>C DCDC2(NM_016356.4):c.1221C>G (p.G407=) - KAAG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1271A>C r.(?) p.(Gln424Pro) Parent #1 - pathogenic g.24178613T>G g.24178385T>G - - DCDC2_000006 - MORL Deafness Variation Database, PubMed: Grati 2015, PubMed: Tlili 2005 - - SUMMARY record - - - 0 - DNA ? - - deafness - PubMed: Grati 2015, PubMed: Tlili 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
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