Full data view for gene CDC45

Information The variants shown are described using the NM_001178010.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-628205_*2322560dup r.0? p.0? Unknown - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.-578453_*1956117del r.0? p.0? Unknown - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. - c.-573929_*1956117del r.0? p.0? Unknown - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.-444329_*1956117del r.0? p.0? Unknown - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.19C>G r.(?) p.(Arg7Gly) Unknown - likely benign g.19467510C>G - CDC45(NM_001178010.1):c.19C>G (p.(Arg7Gly)) - UFD1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>T r.(?) p.(Val23Leu) Unknown - VUS g.19467696G>T - CDC45(NM_003504.5):c.67G>T (p.(Val23Leu)) - UFD1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133G>A r.(?) p.(Val45Met) Unknown - VUS g.19468497G>A - CDC45(NM_003504.4):c.133G>A (p.(Val45Met)) - UFD1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241G>A r.(?) p.(Val81Ile) Unknown - likely benign g.19470249G>A g.19482726G>A CDC45(NM_001178010.1):c.241G>A (p.(Val81Ile)), CDC45(NM_001178010.2):c.241G>A (p.V81I) - UFD1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.241G>A r.(?) p.(Val81Ile) Unknown - benign g.19470249G>A - CDC45(NM_001178010.1):c.241G>A (p.(Val81Ile)), CDC45(NM_001178010.2):c.241G>A (p.V81I) - UFD1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.318C>T r.(?) p.(Val106=) Unknown - VUS g.19470326C>T - CDC45(NM_001178010.2):c.318C>T (p.V106=) - UFD1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469C>T r.(?) p.(Arg157Cys) Unknown - VUS g.19471511C>T g.19483988C>T CDC45(NM_001178010.2):c.469C>T (p.R157C), CDC45(NM_003504.5):c.469C>T (p.(Arg157Cys)) - UFD1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469C>T r.(?) p.(Arg157Cys) Unknown - VUS g.19471511C>T - CDC45(NM_001178010.2):c.469C>T (p.R157C), CDC45(NM_003504.5):c.469C>T (p.(Arg157Cys)) - UFD1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476G>T r.(?) p.(Arg159Leu) Unknown - VUS g.19471518G>T - CDC45(NM_003504.5):c.476G>T (p.(Arg159Leu)) - UFD1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.486+5G>T r.spl? p.? Unknown - VUS g.19471533G>T - CDC45(NM_001178010.2):c.486+5G>T - UFD1L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.531G>A r.(?) p.(Trp177*) Unknown - likely pathogenic g.19481894G>A - CDC45(NM_003504.5):c.531G>A (p.(Trp177*)) - CDC45_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548C>G r.(?) p.(Ser183Cys) Unknown - likely benign g.19482035C>G g.19494512C>G CDC45(NM_001178010.2):c.548C>G (p.S183C) - CDC45_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.630G>A r.spl p.? Parent #2 ACMG pathogenic (recessive) g.19482117G>A g.19494594G>A c.630G>A - CDC45_000005 minigene splicing assay confirms splicing defect - - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - MGORS - - - - - - - - - - - 1 Louise Bicknell
?/. - c.901C>T r.(?) p.(Arg301Trp) Unknown - VUS g.19492985C>T - CDC45(NM_001178010.2):c.901C>T (p.R301W) - CDC45_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045G>C r.(?) p.(Asp349His) Unknown - VUS g.19495033G>C - CDC45(NM_003504.5):c.949G>C (p.(Asp317His)) - CDC45_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1165C>T r.(?) p.(Arg389Cys) Unknown - VUS g.19496066C>T - CDC45(NM_003504.5):c.1069C>T (p.(Arg357Cys)) - CDC45_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1453G>A r.(?) p.(Gly485Ser) Unknown - VUS g.19502488G>A g.19514965G>A CDC45(NM_001178010.2):c.1453G>A (p.G485S), CDC45(NM_003504.5):c.1357G>A (p.(Gly453Ser)) - CDC45_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1453G>A r.(?) p.(Gly485Ser) Unknown - likely benign g.19502488G>A g.19514965G>A CDC45(NM_001178010.2):c.1453G>A (p.G485S), CDC45(NM_003504.5):c.1357G>A (p.(Gly453Ser)) - CDC45_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1541_1544del r.(1541_1544del) p.(Lys514Thrfs*10) Parent #1 - pathogenic (recessive) g.19504054_19504057del g.19516531_19516534del - - CDC45_000006 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - MGORS - - - - - - - - - - - 1 Louise Bicknell
?/. - c.1546C>T r.(?) p.(Arg516Trp) Unknown - VUS g.19504059C>T g.19516536C>T CDC45(NM_001178010.2):c.1546C>T (p.R516W) - CDC45_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1621A>G r.(?) p.(Ile541Val) Unknown - VUS g.19504134A>G - CDC45(NM_003504.5):c.1525A>G (p.(Ile509Val)) - CDC45_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1627C>T r.(?) p.(Pro543Ser) Unknown - VUS g.19504140C>T - CDC45(NM_003504.5):c.1531C>T (p.(Pro511Ser)) - CDC45_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1628C>T r.(?) p.(Pro543Leu) Unknown - VUS g.19504141C>T - CDC45(NM_003504.5):c.1532C>T (p.(Pro511Leu)) - CDC45_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1756C>T r.(?) p.(Arg586Trp) Unknown - pathogenic g.19506390C>T - CDC45(NM_001178010.2):c.1756C>T (p.R586W) - CLDN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3355T>C r.(=) p.(=) Unknown - VUS g.19511357T>C - CLDN5(NM_001363066.2):c.422A>G (p.(Asn141Ser)) - CLDN5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3518C>T r.(=) p.(=) Unknown - likely benign g.19511520C>T - CLDN5(NM_001363066.2):c.259G>A (p.(Ala87Thr)) - CLDN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3718C>A r.(=) p.(=) Unknown - likely benign g.19511720C>A g.19524197C>A CLDN5(NM_001130861.1):c.314G>T (p.(Gly105Val)) - CLDN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3875C>T r.(=) p.(=) Unknown - VUS g.19511877C>T g.19524354C>T CLDN5(NM_001130861.1):c.157G>A (p.(Gly53Arg)) - CLDN5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3907G>T r.(=) p.(=) Unknown - VUS g.19511909G>T g.19524386G>T CLDN5(NM_001130861.1):c.125C>A (p.(Thr42Asn)) - CLDN5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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