Full data view for gene RNASEH2B

Information The variants shown are described using the NM_024570.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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     
+?/. 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 ClinVar-1262 Rump et al accepted for publication in BMC Medical Genomics - rs75184679 Germline yes 1/38 patients - 0 - DNA SEQ-NG-I DNA isolated from Blood - AGS-2 - - - F yes - - - 0 - - 1 Birgit Sikkema-Raddatz
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F4 PubMed: Crow 2006 - - yes Algeria - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 10 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 single heterozygous mutation after partial testing - second remains uncharacterised - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 3 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 homozygosity for the TREX1 mutation c.341G>A as well, sufficient to be causative - unclear significance of RNASEH2B finding - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Egyptian - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #2 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 10 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 2 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Maternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Maternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - Argentina - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Hungarian - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - French - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - - - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Italian - 0 - - 1 Johan den Dunnen
+/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - English - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - ? (unknown) Unknown - 0 - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic g.51519581G>A g.50945445G>A RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic g.51519581G>A g.50945445G>A RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic g.51519581G>A g.50945445G>A RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F18 PubMed: Crow 2006 - - no United States European - 0 - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Ala177Thr) Parent #2 - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F19 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F11 PubMed: Crow 2006 - - no Algeria;Tunisia - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F5 PubMed: Crow 2006 - - yes Morocco - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F9 PubMed: Crow 2006 - - yes Ireland - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F10 PubMed: Crow 2006 - - no Morocco - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F12 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F13 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F14 PubMed: Crow 2006 - - no Canada French Canadian - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Maternal (confirmed) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F15 PubMed: Crow 2006 - - no United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F16 PubMed: Crow 2006 - - no Germany - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F20 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic g.51519581G>A g.50945445G>A RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A - - - RNASEH2B_000003 - PubMed: Mahler 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? Pat6 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Germany - - 0 - - 1 Johan den Dunnen
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