Full data view for gene RNASEH2B

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 6 c.488C>T pathogenic (recessive) r.(?) p.(Thr163Ile) Parent #1 g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F19 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. 6 c.488C>T - r.(?) p.(Thr163Ile) Parent #2 g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 2 Lampros Mavrogiannis
+/. 6 c.488C>T pathogenic (recessive) r.(?) p.(Thr163Ile) Maternal (confirmed) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F20 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. 6 c.488C>T pathogenic (recessive) r.(?) p.(Thr163Ile) Parent #2 g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F12 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
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