Full data view for gene ANAPC1

Information The variants shown are described using the NM_022662.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-490901_*1155167del r.0? p.0? Unknown ACMG pathogenic g.111371701_113132395del g.110614124_112374818del MERTK:NM_006343, - ACOXL_000006 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-442 PubMed: Rodriguez-Munoz 2020 family fRPN-197, proband F - Spain - - - - - 1 LOVD
?/. - c.73C>G r.(?) p.(Arg25Gly) Unknown - VUS g.112638330G>C - ANAPC1(NM_022662.4):c.73C>G (p.(Arg25Gly)) - ANAPC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545C>T r.(?) p.(Pro182Leu) Unknown - VUS g.112630273G>A g.111872696G>A ANAPC1(NM_022662.4):c.545C>T (p.(Pro182Leu)) - ANAPC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660A>G r.(?) p.(Ile220Met) Unknown - VUS g.112625625T>C - ANAPC1(NM_022662.4):c.660A>G (p.(Ile220Met)) - ANAPC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1359-11_1359-7del r.(=) p.(=) Unknown - VUS g.112614477_112614481del - ANAPC1(NM_022662.4):c.1359-11_1359-7del - ANAPC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1393C>T r.(?) p.(Gln465*) Unknown - VUS g.112614429G>A - ANAPC1(NM_022662.4):c.1393C>T (p.(Gln465Ter)) - ANAPC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1570A>G r.(?) p.(Thr524Ala) Unknown - likely benign g.112608433T>C - ANAPC1(NM_022662.3):c.1570A>G (p.(Thr524Ala)) - ANAPC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1650+3A>G r.spl? p.? Unknown - likely benign g.112608350T>C - ANAPC1(NM_022662.3):c.1650+3A>G (p.?) - ANAPC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1777A>C r.(?) p.(Asn593His) Unknown - VUS g.112605316T>G - NM_022662:c.A1777C (N593H) - ANAPC1_000010 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0637 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) F - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+/. - c.1778dup r.(?) p.(Asn593Lysfs*9) Paternal (confirmed) - pathogenic (recessive) g.112605316dup g.111847739dup 1778dupA - ANAPC1_000008 - Journal: Ajeawung 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam6PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+/. - c.1778dup r.(?) p.(Asn593Lysfs*9) Paternal (confirmed) - pathogenic (recessive) g.112605316dup g.111847739dup - 1778dupA ANAPC1_000008 - Journal: Ajeawung 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam6PatB Journal: Ajeawung 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1836T>A r.(?) p.(=) Unknown - likely benign g.112604731A>T - ANAPC1(NM_022662.4):c.1836T>A (p.(Ile612=)) - ANAPC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2513C>T r.(?) p.(Thr838Met) Unknown - benign g.112588975G>A - ANAPC1(NM_022662.3):c.2513C>T (p.(Thr838Met)) - ANAPC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-194 p.Pro903Lysfs*4 Both (homozygous) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Pat1 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-195 p.Pro903Lysfs*4 Both (homozygous) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Pat2 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-196 p.Pro903Lysfs*4 Both (homozygous) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam3PatA Journal: Ajeawung 2019 2-generation family, 2 affected sisters, unaffected carrier mother F - - - - - - - 2 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-197 p.Pro903Lysfs*4 Both (homozygous) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam3PatB Journal: Ajeawung 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-198 p.Pro903Lysfs*4 Both (homozygous) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Pat4 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother F - - - - - - - 1 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-199 p.Pro903Lysfs*4 Maternal (confirmed) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Pat5 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-200 p.Pro903Lysfs*4 Maternal (confirmed) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam6PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-201 p.Pro903Lysfs*4 Maternal (confirmed) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam6PatB Journal: Ajeawung 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-202 p.Pro903Lysfs*4 Maternal (confirmed) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam7PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+/. - c.2705-198C>T r.2704_2705ins2705-298_2705-203 p.Pro903Lysfs*4 Maternal (confirmed) - pathogenic (recessive) g.112582942G>A g.111825365G>A - - ANAPC1_000007 - Journal: Ajeawung 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam7PatB Journal: Ajeawung 2019 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.4373+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.112552394C>T g.111794817C>T - - ANAPC1_000009 - Journal: Ajeawung 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam7PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+?/. - c.4373+1G>A r.spl? p.? Paternal (confirmed) - pathogenic (recessive) g.112552394C>T g.111794817C>T - - ANAPC1_000009 - Journal: Ajeawung 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Fam7PatB Journal: Ajeawung 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.4597C>G r.(?) p.(Leu1533Val) Unknown - VUS g.112550054G>C - ANAPC1(NM_022662.4):c.4597C>G (p.(Leu1533Val)) - ANAPC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4713-10T>A r.(=) p.(=) Unknown - likely benign g.112545907A>T - ANAPC1(NM_022662.4):c.4713-10T>A - ANAPC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4882_4883del r.(?) p.(Thr1628Alafs*17) Paternal (inferred) - pathogenic (recessive) g.112542973_112542974del g.111785396_111785397del - - ANAPC1_000006 - Journal: Ajeawung 2019 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RTS2 Pat5 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
?/. - c.5083G>C r.(?) p.(Gly1695Arg) Unknown - VUS g.112540065C>G - ANAPC1(NM_022662.4):c.5083G>C (p.(Gly1695Arg)) - ANAPC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5386-11_5386-5del r.spl? p.? Unknown - likely benign g.112534646_112534652del g.111777069_111777075del ANAPC1(NM_022662.3):c.5386-11_5386-5del (p.?) - ANAPC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5584+4A>G r.spl? p.? Unknown - likely benign g.112534432T>C - ANAPC1(NM_022662.4):c.5584+4A>G - ANAPC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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