Full data view for gene CDC20

Information The variants shown are described using the NM_001255.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.544C>T r.(?) p.(Arg182*) Maternal (confirmed) - pathogenic (recessive) g.43825756C>T g.43360085C>T - - CDC20_000002 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ - - INFF Fam3 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. - c.683A>G r.(?) p.(Tyr228Cys) Both (homozygous) - pathogenic (recessive) g.43825990A>G g.43360319A>G - - CDC20_000003 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFF Fam1 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected parents F yes China - - 0 - - 1 Johan den Dunnen
+/. - c.813_814insAGTG r.(?) p.(Gly272Serfs*24) Maternal (confirmed) - pathogenic (recessive) g.43826226_43826229dup g.43360555_43360558dup 813_814insAGTG - CDC20_000004 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ - - INFF Fam4 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. - c.965G>A r.(?) p.(Arg322Gln) Maternal (confirmed) - pathogenic (recessive) g.43826520G>A g.43360849G>A - - CDC20_000005 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ - - INFF Fam5 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. - c.965G>A r.(?) p.(Arg322Gln) Paternal (confirmed) - pathogenic (recessive) g.43826520G>A g.43360849G>A - - CDC20_000005 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ - - INFF Fam3 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. - c.965G>A r.(?) p.(Arg322Gln) Paternal (confirmed) - pathogenic (recessive) g.43826520G>A g.43360849G>A - - CDC20_000005 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ - - INFF Fam4 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1176_1179del r.(?) p.(Cys392*) Paternal (confirmed) - pathogenic (recessive) g.43826889_43826892del g.43361218_43361221del 1176_1179delTCTG - CDC20_000006 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ - - INFF Fam5 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1316T>G r.(?) p.(Leu439Arg) Both (homozygous) - pathogenic (recessive) g.43827978T>G g.43362307T>G - - CDC20_000007 - PubMed: Zhao 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFF Fam2 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected parents F yes China - - 0 - - 1 Johan den Dunnen
?/. - c.*2146T>A r.(=) p.(=) Unknown - VUS g.43830946T>A g.43365275T>A - - ELOVL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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