Full data view for gene CDCA7

Information The variants shown are described using the NM_031942.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.45G>A r.(?) p.(Lys15=) Unknown - likely benign g.174223463G>A g.173358735G>A CDCA7(NM_031942.4):c.45G>A (p.K15=), CDCA7(NM_031942.5):c.45G>A (p.K15=) - CDCA7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>A r.(?) p.(Lys15=) Unknown - likely benign g.174223463G>A - CDCA7(NM_031942.4):c.45G>A (p.K15=), CDCA7(NM_031942.5):c.45G>A (p.K15=) - CDCA7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45_47del r.(?) p.(Lys15del) Unknown - VUS g.174223463_174223465del g.173358735_173358737del CDCA7(NM_031942.4):c.45_47delGAA (p.K15del) - CDCA7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T r.(?) p.(Val99=) Unknown - likely benign g.174224132C>T g.173359404C>T CDCA7(NM_031942.4):c.297C>T (p.V99=) - CDCA7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(His145=) Unknown - likely benign g.174228004C>T g.173363276C>T CDCA7(NM_031942.4):c.435C>T (p.H145=) - CDCA7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - VUS g.174228080C>T - - - CDCA7_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.575A>G r.(?) p.(Asn192Ser) Unknown - likely benign g.174228144A>G g.173363416A>G CDCA7(NM_031942.4):c.575A>G (p.N192S) - CDCA7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621+19G>A r.(=) p.(=) Unknown - likely benign g.174228209G>A g.173363481G>A CDCA7(NM_031942.5):c.621+19G>A - CDCA7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680C>A r.(?) p.(Pro227His) Unknown - VUS g.174228604C>A g.173363876C>A CDCA7(NM_031942.4):c.680C>A (p.P227H) - CDCA7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745A>C r.(?) p.(Arg249=) Unknown - likely benign g.174229568A>C - CDCA7(NM_031942.5):c.745A>C (p.R249=) - CDCA7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1036-7T>C r.(=) p.(=) Unknown - likely benign g.174231004T>C - CDCA7(NM_031942.4):c.1036-7T>C - CDCA7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1057C>T r.(?) p.(Arg353Cys) Both (homozygous) - pathogenic g.174231032C>T g.173366304C>T NM_145810.2:c.820C>T (Arg274Cys) - CDCA7_000001 alpha-satellite hypomethylation not analysed PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF3 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents M yes Turkey - 26y - - - 1 Peter Thijssen
+/. 8 c.1058G>A r.(?) p.(Arg353His) Both (homozygous) - pathogenic g.174231033G>A g.173366305G>A NM_145810.2:c.821G>A (Arg274His) - CDCA7_000004 alpha-satellite hypomethylation PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF3 - PubMed: Thijssen 2015 male from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents M yes Turkey - >10y - - - 2 Peter Thijssen
+/. 8 c.1058G>A r.(?) p.(Arg353His) Both (homozygous) - pathogenic g.174231033G>A g.173366305G>A NM_145810.2:c.821G>A (Arg274His) - CDCA7_000004 alpha-satellite hypomethylation not analysed PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF3 - PubMed: Thijssen 2015 female from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents F yes Turkey - >03y - - - 1 Peter Thijssen
+/. 8 c.1118G>T r.(?) p.(Gly373Val) Both (homozygous) - pathogenic g.174231093G>T g.173366365G>T NM_145810.2:c.881G>T (Gly294Val) - CDCA7_000002 alpha-satellite hypomethylation PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF3 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents (suspected consanguineous) F ? France - >17y - - - 1 Peter Thijssen
+/. 8 c.1148G>A r.(?) p.(Arg383His) Both (homozygous) - pathogenic g.174231123G>A g.173366395G>A NM_145810.2:c.911G>A (Arg304His) - CDCA7_000003 alpha-satellite hypomethylation PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF3 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents F yes France - >37y - - - 1 Peter Thijssen
-?/. - c.*66dup r.(?) p.(=) Unknown - likely benign g.174232458dup g.173367730dup 174232452 insertion A +T - CDCA7_000005 - PubMed: Pfeffer 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - - MFM9 - PubMed: Chinnery 2001, PubMed: Pfeffer 2012 6-generation family, 24 affecteds (15F, 9M) - no United Kingdom (Great Britain) - - - - - 24 Claire Chauveau
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