Full data view for gene RNASEH2B

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

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. 2i c.136+1del r.spl? p.(Gly46GlufsTer18) Maternal (confirmed) - pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - - - - Germline - - - - - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Hungarian - - - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - French - - - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - - - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - - - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - - - - Unknown - - - - - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - - - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - - - DNA SEQ - - AGS - - - - - - German - - - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - - - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - - - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - - - - 1 Johan den Dunnen
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