All transcript variants in gene DNA2

Information The variants shown are described using the NM_001080449.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/? 20i c.3114+6delc - r.[2935_3114del; 2935_3116del; 2935_3121del; 2935_3134del; 2935_3136del] p.[Val979_Leu1038del; Val979Hisfs*2; Val979Ilefs*65; Val979Argfs*3; Val979Asnfs*60] g.70176460delg g.68416703delg p.(Val1065Ilefs*23) - DNA2_000001 WB severely reduced DNA2 protein PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline yes - - 0 - Fowzan Alkuraya
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