Unique variants in gene RNASEH1

Information The variants shown are described using the NM_002936.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 3 4 c.424G>A r.(?) p.(Val142Ile) - pathogenic g.3598048C>T g.3550458C>T - - RNASEH1_000001 - PubMed: Reyes 2015, Journal: Reyes 2015 - - Germline yes - - - - Johan den Dunnen
+/. 1 4 c.469C>T r.(?) p.(Arg157*) - pathogenic g.3598003G>A g.3550413G>A - - RNASEH1_000002 - PubMed: Reyes 2015, Journal: Reyes 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.554C>T r.(?) p.(Ala185Val) - pathogenic g.3596658G>A g.3549068G>A - - RNASEH1_000003 - PubMed: Reyes 2015, Journal: Reyes 2015 - - Germline yes - - - - Johan den Dunnen
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