Full data view for gene POLG

Information The variants shown are described using the NM_002693.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.752C>T r.(?) p.(Thr251Ile) Maternal (inferred) - pathogenic g.89873415G>A g.89330184G>A - - POLG_000046 variant associated with CPEO phenotype - - - Germline - - - - - DNA SEQ blood - CPEO - - also has a dominant MYH7 mutation with cardiomyopathy F no Portugal white >52y - - ubiquinone 200 mg daily 3 André Militão
+/. - c.752C>T r.(?) p.(Thr251Ile) Both (homozygous) - pathogenic g.89873415G>A g.89330184G>A - - POLG_000046 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel HSN 28902413-Pat80 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Parent #1 - pathogenic g.89873415G>A g.89330184G>A p.(Val855Leu) - POLG_000046 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel HSN 28902413-Pat81 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Unknown ACMG pathogenic g.89873415G>A - - - POLG_000046 ACMG grading: PS3,PM2,PM3,PP1,PP2,PP4 Van Goethem et al. 2003. EurJHumGenet 11: 547; Filosto et al. 20013. ArchNeurol 609: 1279-84; Ferrari et al. 2005. Brain 128: 723-31; Lamantea et al. 2004. AnnNeurol 56: 454-5 - rs113994094 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.752C>T r.(?) p.(Thr251Ile) Parent #2 - pathogenic (recessive) g.89873415G>A g.89330184G>A [T251I;P587L] - POLG_000046 cellular mtDNA depletion PubMed: Ashley 2008 - - Germline - - - - - DNA SEQ - - MTDPS PatD PubMed: Ashley 2008 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Parent #1 - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I](+)[P587L](+)[G848S] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Parent #1 - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I;P587L]+[S1095R] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat7 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Unknown - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I](+)[P587L](+)[A467T] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat10 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Unknown - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I](+)[P587L](+)[R852C] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat18 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Unknown - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I](+)[P587L](+)[A467T] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat22 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Unknown - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I](+)[P587L](+)[A467T] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat24 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Both (homozygous) - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I;P587L]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat26 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
?/. - c.752C>T r.(?) p.(Thr251Ile) Parent #1 - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[T251I;P587L]+[S1095R] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat28 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Parent #2 - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[R232H;H277L]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat9 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Parent #2 - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[R232H;H277L]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat16 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.752C>T r.(?) p.(Thr251Ile) Parent #2 - pathogenic (recessive) g.89873415G>A g.89330184G>A p.[A467T]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat21 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Maternal (confirmed) - pathogenic g.89868870G>A g.89325639G>A - - POLG_000046 - Castiglioni, submitted - rs113994096 Germline yes - - - - DNA SEQ-NG blood - ? - Castiglioni, submitted - F no Chile - - - - - 1 Fabiana Fattori
+/. - c.1760C>T r.(?) p.(Pro587Leu) Maternal (confirmed) - pathogenic g.89868870G>A g.89325639G>A - - POLG_000046 - Castiglioni, submitted - - Germline - - - - - DNA SEQ-NG blood - ? - Castiglioni, submitted - F no Chile - - - - - 1 Fabiana Fattori
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic g.89868870G>A g.89325639G>A POLG(NM_002693.2):c.1760C>T (p.P587L), POLG(NM_002693.3):c.1760C>T (p.(Pro587Leu), p.P587L) - POLG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1760C>T r.(?) p.(Pro587Leu) Maternal (inferred) - pathogenic g.89868870G>A g.89325639G>A - - POLG_000046 in cis mutation c.752C>T, variant associated with CPEO phenotype - - - Germline - - - - - DNA SEQ blood - CPEO - - also has a dominant MYH7 mutation with cardiomyopathy F no Portugal white >52y - - ubiquinone 200 mg daily 3 André Militão
+/. - c.1760C>T r.(?) p.(Pro587Leu) Both (homozygous) - pathogenic g.89868870G>A g.89325639G>A - - POLG_000046 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel HSN 28902413-Pat80 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #1 - pathogenic g.89868870G>A g.89325639G>A - - POLG_000046 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel HSN 28902413-Pat81 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic g.89868870G>A g.89325639G>A POLG(NM_002693.2):c.1760C>T (p.P587L), POLG(NM_002693.3):c.1760C>T (p.(Pro587Leu), p.P587L) - POLG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic g.89868870G>A g.89325639G>A POLG(NM_002693.2):c.1760C>T (p.P587L), POLG(NM_002693.3):c.1760C>T (p.(Pro587Leu), p.P587L) - POLG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic g.89868870G>A g.89325639G>A POLG(NM_002693.2):c.1760C>T (p.P587L), POLG(NM_002693.3):c.1760C>T (p.(Pro587Leu), p.P587L) - POLG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic g.89868870G>A g.89325639G>A POLG(NM_002693.2):c.1760C>T (p.P587L), POLG(NM_002693.3):c.1760C>T (p.(Pro587Leu), p.P587L) - POLG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #1 - VUS g.89868870G>A g.89325639G>A - - POLG_000046 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113994096 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic g.89868870G>A - - - POLG_000046 - Van Goethem et al. 2003. EurJHumGenet 11: 547; Filosto et al. 2003. ArchNeurol 609: 1279-84; Ferrari et al. 2005. Brain 128: 723-31; Lamantea et al. 2004. AnnNeurol 56: 454-5 - rs113994096 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #2 - pathogenic (recessive) g.89868870G>A g.89325639G>A [P587L,P589L] - POLG_000046 - PubMed: Ashley 2008 - - Germline - - - - - DNA SEQ - - MTDPS PatV PubMed: Ashley 2008 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #2 - pathogenic (recessive) g.89868870G>A g.89325639G>A [T251I;P587L] - POLG_000046 cellular mtDNA depletion PubMed: Ashley 2008 - - Germline - - - - - DNA SEQ - - MTDPS PatD PubMed: Ashley 2008 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I](+)[P587L](+)[G848S] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #1 - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I;P587L]+[S1095R] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat7 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I](+)[P587L](+)[A467T] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat10 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I](+)[P587L](+)[R852C] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat18 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I](+)[P587L](+)[A467T] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat22 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I](+)[P587L](+)[A467T] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat24 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #1 - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I;P587L]+[S1095R] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat28 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #2 - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[R232H;H277L]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat9 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #2 - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[R232H;H277L]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat16 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Parent #2 - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[A467T]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat21 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1760C>T r.(?) p.(Pro587Leu) Unknown - pathogenic (recessive) g.89868870G>A g.89325639G>A p.[T251I;P587L]+[T251I;P587L] - POLG_000046 classification individual variants not reported PubMed: Bereau 2016 - - Germline - - - - - DNA SEQ - - ? Pat26 PubMed: Bereau 2016 - - - France - - - - - 1 Johan den Dunnen
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