All transcript variants in gene DNA2

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

27 entries on 1 page. Showing entries 1 - 27.
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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     
-?/. - c.68C>T likely benign r.(?) p.(Ala23Val) g.70231554G>A - DNA2(NM_001080449.2):c.68C>T (p.A23V) - DNA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.74+4A>C pathogenic (recessive) r.spl p.? g.70231544T>G g.68471787T>G - - DNA2_000008 Minigene assay indicates impaired splicing although low levels of normal splicing remain Journal: Tarnauskaite 2019 - - Germline yes - - 0 - David A. Parry
+?/. - c.74+4A>C pathogenic (recessive) r.spl p.? g.70231544T>G g.68471787T>G - - DNA2_000008 Minigene assay indicates impaired splicing although low levels of normal splicing remain Journal: Tarnauskaite 2019 - - Germline yes - - 0 - David A. Parry
?/. - c.152C>T ACMG: 3 r.(?) p.Ala51Val g.70229843G>A - - - DNA2_000004 ACMG grading: PM2,BP4 - - rs773427416 Germline - - - 0 - Andreas Laner
-/. - c.357G>A benign r.(?) p.(=) g.70227964C>T - - - DNA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.461G>A likely benign r.(?) p.(Arg154His) g.70225550C>T - DNA2(NM_001080449.2):c.461G>A (p.(Arg154His)) - DNA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.653G>A likely benign r.(?) p.(Cys218Tyr) g.70218927C>T - DNA2(NM_001080449.2):c.653G>A (p.C218Y) - DNA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.720-4del likely benign r.spl? p.? g.70210019del - DNA2(NM_001080449.2):c.720-4del (p.?) - DNA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.720-4dup benign r.spl? p.? g.70210019dup - DNA2(NM_001080449.2):c.720-4dupT - DNA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.775A>G ACMG: 3 r.(?) p.Met259Val g.70209949T>C - - - DNA2_000005 not regarded causative for phenotype in patient, no second variante in DNA2 detected - - - Germline - - - 0 - Andreas Laner
-?/. - c.791G>A likely benign r.(?) p.(Ser264Asn) g.70209933C>T - DNA2(NM_001080449.2):c.791G>A (p.S264N) - DNA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.878A>T VUS r.(?) p.(Lys293Met) g.70209846T>A - - - DNA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1058-6dup likely benign r.(=) p.(=) g.70204853dup - DNA2(NM_001080449.2):c.1058-6dupT - DNA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1465A>C likely benign r.(?) p.(Lys489Gln) g.70196949T>G - DNA2(NM_001080449.2):c.1465A>C (p.(Lys489Gln)) - DNA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4] g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 Alteration of splicing shown via minigene assay. This variant results in partial loss of splicing, but some normally spliced transcript remains. Journal: Tarnauskaite 2019 - - Germline yes - - 0 - David A. Parry
+/. 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTCT pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4] g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 Alteration of splicing shown via minigene assay. This variant results in partial loss of splicing, but some normally spliced transcript remains. Transcript analysis using RNA isolated from patient PBLs demonstrated similarly altered splicing. Journal: Tarnauskaite 2019 - - Germline yes - - 0 - David A. Parry
-?/. - c.1796G>A likely benign r.(?) p.(Arg599His) g.70192040C>T - DNA2(NM_001080449.2):c.1796G>A (p.R599H) - DNA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1796G>A likely benign r.(?) p.(Arg599His) g.70192040C>T - DNA2(NM_001080449.2):c.1796G>A (p.R599H) - DNA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1819C>G VUS r.(?) p.(Leu607Val) g.70192017G>C - - - DNA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1963A>G pathogenic (recessive) r.(?) p.(Thr655Ala) g.70191639T>C g.68431882T>C - - DNA2_000007 - Journal: Tarnauskaite 2019 - - Germline yes - - 0 - David A. Parry
?/. - c.1983C>T VUS r.(?) p.(=) g.70191619G>A - DNA2(NM_001080449.2):c.1983C>T (p.L661=) - DNA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2153G>T likely benign r.(?) p.(Cys718Phe) g.70190248C>A - DNA2(NM_001080449.2):c.2153G>T (p.(Cys718Phe)) - DNA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2272T>G likely benign r.(?) p.(Phe758Val) g.70182584A>C - - - DNA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2278A>G VUS r.(?) p.(Ile760Val) g.70182578T>C - DNA2(NM_001080449.2):c.2278A>G (p.(Ile760Val)) - DNA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2286T>G VUS r.(?) p.(Asp762Glu) g.70182570A>C - - - DNA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2697+2T>G VUS r.spl? p.? g.70181980A>C - DNA2(NM_001080449.2):c.2697+2T>G (p.?) - DNA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 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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