Full data view for gene POLE

Information The variants shown are described using the NM_006231.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.1686+32C>G r.[1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=] p.[Asn563ValfsTer16,=] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES IMAGE Pat3 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Ireland - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat4 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat5 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Fam7Pat8 PubMed: Logan 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Ireland - - - - - 2 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Fam7Pat9 PubMed: Logan 2018 sister F - Ireland - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Fam9Pat11 PubMed: Logan 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Australia - - - - - 2 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Fam9Pat12 PubMed: Logan 2018 sister F - Australia - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Maternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat14 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=] p.[Asn563ValfsTer16,=] Paternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES IMAGE Fam1Pat1 PubMed: Logan 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Paternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Fam1Pat2 PubMed: Logan 2018 sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Paternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat6 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Parent #2 - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat7 PubMed: Logan 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Paternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat10 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Paternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat13 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Australia - - - - - 1 Johan den Dunnen
+/. - c.1686+32C>G r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]) p.[(Asn563ValfsTer16,=)] Paternal (confirmed) - pathogenic (recessive) g.133249181G>C g.132672595G>C - - POLE_000272 - PubMed: Logan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMAGE Pat15 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
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