Transcript #00006512

Transcript name DNA replication helicase 2 homolog (yeast)
Gene name DNA2 (DNA replication helicase 2 homolog (yeast))
Chromosome 10
Transcript - NCBI ID NM_001080449.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001073918.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.68C>T likely benign r.(?) p.(Ala23Val)
+?/. - c.74+4A>C pathogenic (recessive) r.spl p.?
+?/. - c.74+4A>C pathogenic (recessive) r.spl p.?
?/. - c.152C>T ACMG: 3 r.(?) p.Ala51Val
-/. - c.357G>A benign r.(?) p.(=)
-?/. - c.461G>A likely benign r.(?) p.(Arg154His)
-?/. - c.653G>A likely benign r.(?) p.(Cys218Tyr)
-?/. - c.720-4del likely benign r.spl? p.?
-/. - c.720-4dup benign r.spl? p.?
?/. - c.775A>G ACMG: 3 r.(?) p.Met259Val
-?/. - c.791G>A likely benign r.(?) p.(Ser264Asn)
?/. - c.878A>T VUS r.(?) p.(Lys293Met)
-?/. - c.1058-6dup likely benign r.(=) p.(=)
-?/. - c.1465A>C likely benign r.(?) p.(Lys489Gln)
+/. 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4]
+/. 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTCT pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4]
-?/. - c.1796G>A likely benign r.(?) p.(Arg599His)
-?/. - c.1796G>A likely benign r.(?) p.(Arg599His)
?/. - c.1819C>G VUS r.(?) p.(Leu607Val)
+?/. - c.1963A>G pathogenic (recessive) r.(?) p.(Thr655Ala)
?/. - c.1983C>T VUS r.(?) p.(=)
-?/. - c.2153G>T likely benign r.(?) p.(Cys718Phe)
-?/. - c.2272T>G likely benign r.(?) p.(Phe758Val)
?/. - c.2278A>G VUS r.(?) p.(Ile760Val)
?/. - c.2286T>G VUS r.(?) p.(Asp762Glu)
?/. - c.2697+2T>G VUS r.spl? p.?
+/? 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]
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