Full data view for gene POLR3A

Information The variants shown are described using the NM_007055.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.1771-7C>G r.(1771_1909del) p.(Pro591Metfs*9) Both (homozygous) - likely pathogenic g.79769440G>C g.78009682G>C - - POLR3A_000010 - - - - Germline - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. - c.1771-7C>G r.spl p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - likely pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat11 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+?/. - c.1771-7C>G r.spl p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #2 - likely pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat7 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+?/. - c.1771-7C>G r.spl p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #2 - likely pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat16 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.(1771_1909del,1643_1909del) p.(Pro591Metfs*9,Gly548_Tyr637del) Parent #2 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat1 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.1771_1909del,1643_1909del p.Pro591Metfs*9,Gly548_Tyr637del Parent #2 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Perrier 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HLD Pat2 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.(1771_1909del,1643_1909del) p.(Pro591Metfs*9,Gly548_Tyr637del) Parent #2 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat3 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.(1771_1909del,1643_1909del) p.(Pro591Metfs*9,Gly548_Tyr637del) Parent #2 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat4 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.(1771_1909del,1643_1909del) p.(Pro591Metfs*9,Gly548_Tyr637del) Parent #2 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat5 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.(1771_1909del,1643_1909del) p.(Pro591Metfs*9,Gly548_Tyr637del) Parent #2 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Perrier 2020 - - Germline - - - - - DNA SEQ - - HLD Pat6 PubMed: Perrier 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.[(1643_1909del,1771_1909del)] p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Harting 2020 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Harting 2020 - F no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.[(1643_1909del,1771_1909del)] p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Harting 2020 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Harting 2020 - F no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.[(1643_1909del,1771_1909del)] p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Harting 2020 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Harting 2020 - F no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.[(1643_1909del,1771_1909del)] p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Harting 2020 - - Germline - - - - - DNA SEQ - - ? Pat4 PubMed: Harting 2020 - M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.[(1643_1909del,1771_1909del)] p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Harting 2020 - - Germline - - - - - DNA SEQ - - ? Pat5 PubMed: Harting 2020 - F no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.[(1643_1909del,1771_1909del)] p.[(Glu548_Tyr637del,Pro591Metfs*9)] Parent #1 - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Harting 2020 - - Germline - - - - - DNA SEQ - - ? Pat6 PubMed: Harting 2020 - M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1771-7C>G r.(=) p.(=) Unknown - pathogenic g.79769440G>C - POLR3A(NM_007055.4):c.1771-7C>G - POLR3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1771-7C>G r.[(1643_1909del,1771_1909del)] p.[(Gly548_Tyr637del,Pro591MetfsTer9)] Both (homozygous) - pathogenic (recessive) g.79769440G>C g.78009682G>C - - POLR3A_000010 - PubMed: Zech 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES DYT CB-DYS-139 PubMed: Zech 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
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