All transcript variants in gene RNASEH2B

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

142 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. 1 c.31dupG - r.(?) p.(Val11Glyfs*32) g.51484243dup g.50910107dupG - - RNASEH2B_000032 - - - - Germline - - - 0 - Lampros Mavrogiannis
+?/+? 1 c.53T>C - r.(?) p.(Phe18Ser) g.51484265T>C g.50910129T>C - - RNASEH2B_000037 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+/. 1i c.64+1G>A - r.spl? p.? g.51484277G>A g.50910141G>A - - RNASEH2B_000030 - - - - Germline - - - 0 - Lampros Mavrogiannis
-?/. - c.65-14C>T likely benign r.(=) p.(=) g.51501529C>T - RNASEH2B(NM_024570.3):c.65-14C>T - RNASEH2B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 2 c.128C>A - r.(?) p.(Pro43His) g.51501606C>A g.50927470C>A - - RNASEH2B_000011 - - - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.132T>A - r.(?) p.(Cys44*) g.51501610T>A g.50927474T>A - - RNASEH2B_000006 - PubMed: Crow 2006 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.132T>A - r.(?) p.(Cys44*) g.51501610T>A g.50927474T>A - - RNASEH2B_000012 - - - - Unknown - - - 0 - Johan den Dunnen
+?/+? 2i c.136_136+1insT - r.spl? p.? g.51501614_51501615insT - c.136+1 inst (IVS 2-3) - RNASEH2B_000038 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.136+1delG - r.spl? p.? g.51501615delG g.50927479delG - - RNASEH2B_000028 - - - - Germline - - - 0 - Lampros Mavrogiannis
+?/+? 2i c.136+1delG - r.spl? p.(=) g.51501615delG g.50927479delG - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 2i c.136+1delG - r.spl? p.(=) g.51501615delG g.50927479delG - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 2i c.136+1delG - r.spl? p.(=) g.51501615delG g.50927479delG - - RNASEH2B_000028 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+?/+? 2i c.136+1delG - r.spl? p.(=) g.51501615delG g.50927479delG - - RNASEH2B_000028 - - - - Unknown - - - 0 - Johan den Dunnen
+?/+? 2i c.136+1delG - r.spl? p.(=) g.51501615delG g.50927479delG - - RNASEH2B_000028 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+?/+? 2i c.136+1delG - r.spl? p.(=) g.51501615delG g.50927479delG - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 2i c.136+1delG - r.spl? p.(=) g.51501615delG g.50927479delG - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
-?/. - c.156G>A likely benign r.(?) p.(=) g.51503630G>A - RNASEH2B(NM_024570.3):c.156G>A (p.L52=) - RNASEH2B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.172C>T - r.(?) p.(Gln58*) g.51503646C>T g.50929510C>T - - RNASEH2B_000013 - - - - Unknown - - - 0 - Johan den Dunnen
-?/. - c.173A>G likely benign r.(?) p.(Gln58Arg) g.51503647A>G - RNASEH2B(NM_001142279.2):c.173A>G (p.Q58R) - RNASEH2B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 c.179T>G pathogenic (recessive) r.(?) p.(Leu60Arg) g.51503653T>G g.50929517T>G - - RNASEH2B_000007 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.179T>G - r.(?) p.(Leu60Arg) g.51503653T>G g.50929517T>G - - RNASEH2B_000014 - - - - Unknown - - - 0 - Johan den Dunnen
-/. - c.189A>G benign r.(?) p.(=) g.51503663A>G - RNASEH2B(NM_024570.3):c.189A>G (p.V63=) - RNASEH2B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.218G>T - r.(?) p.(Trp73Leu) g.51503692G>T g.50929556G>T - - RNASEH2B_000015 - - - - Unknown - - - 0 - Johan den Dunnen
+/. 3i c.244+1G>T - r.spl? p.? g.51503719G>T g.50929583G>T - - RNASEH2B_000029 - - - - Germline - - - 0 - Lampros Mavrogiannis
+?/+? 3i c.244+1G>T - r.spl? p.(=) g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 3i c.244+1G>T - r.spl? p.(=) g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 3i c.244+1G>T - r.spl? p.(=) g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 3i c.244+1G>T - r.spl? p.(=) g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
-/. - c.245-24C>T benign r.(=) p.(=) g.51504795C>T - RNASEH2B(NM_024570.3):c.245-24C>T - RNASEH2B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 4 c.247G>A - r.(?) p.(Gly83Ser) g.51504821G>A g.50930685G>A - - RNASEH2B_000016 - - - - Unknown - - - 0 - Johan den Dunnen
+/. 4 c.257A>G pathogenic (recessive) r.(?) p.(His86Arg) g.51504831A>G g.50930695A>G - - RNASEH2B_000004 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.257A>G - r.(?) p.(His86Arg) g.51504831A>G g.50930695A>G - - RNASEH2B_000017 - - - - Unknown - - - 0 - Johan den Dunnen
+/. 4 c.263C>G - r.(?) p.(Ala88Gly) g.51504837C>G g.50930701C>G - - RNASEH2B_000033 - - - - Germline - - - 0 - Lampros Mavrogiannis
?/. - c.269C>T VUS r.(?) p.(Pro90Leu) g.51504843C>T - RNASEH2B(NM_001142279.2):c.269C>T (p.(Pro90Leu)) - RNASEH2B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.322-54T>G benign r.(=) p.(=) g.51508967T>G - RNASEH2B(NM_024570.3):c.322-54T>G - RNASEH2B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.356A>G likely pathogenic r.(?) p.(Asp119Gly) g.51509055A>G - - - RNASEH2B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 5 c.412C>T - r.(?) p.(Leu138Phe) g.51509111C>T g.50934975C>T - - RNASEH2B_000018 - - - - Unknown - - - 0 - Johan den Dunnen
+?/+? 5 c.412C>T - r.(?) p.(Leu138Phe) g.51509111C>T g.50934975C>T - - RNASEH2B_000018 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - 0 - Johan den Dunnen
+?/. 5 c.436G>A - r.spl? p.(Gly146Ser) g.51509135G>A g.50934999G>A - - RNASEH2B_000031 - - - - Germline - - - 0 - Lampros Mavrogiannis
+?/+? 5i c.436+1G>T - r.spl? p.(=) g.51509136G>T g.50935000G>T - - RNASEH2B_000039 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
-?/. - c.455A>G likely benign r.(?) p.(Asn152Ser) g.51517475A>G - RNASEH2B(NM_001142279.2):c.455A>G (p.N152S), RNASEH2B(NM_024570.3):c.455A>G (p.N152S) - RNASEH2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.455A>G likely benign r.(?) p.(Asn152Ser) g.51517475A>G - RNASEH2B(NM_001142279.2):c.455A>G (p.N152S), RNASEH2B(NM_024570.3):c.455A>G (p.N152S) - RNASEH2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.455A>G likely benign r.(?) p.(Asn152Ser) g.51517475A>G - RNASEH2B(NM_001142279.2):c.455A>G (p.N152S), RNASEH2B(NM_024570.3):c.455A>G (p.N152S) - RNASEH2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.476G>T - r.(?) p.(Ser159Ile) g.51517496G>T g.50943360G>T - - RNASEH2B_000019 - - - - Unknown - - - 0 - Johan den Dunnen
+?/. 6 c.476G>T - r.(?) p.(Ser159Ile) g.51517496G>T g.50943360G>T - - RNASEH2B_000019 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 6 c.485A>C pathogenic (recessive) r.(?) p.(Lys162Thr) g.51517505A>C g.50943369A>C - - RNASEH2B_000001 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.485A>C - r.(?) p.(Lys162Thr) g.51517505A>C g.50943369A>C - - RNASEH2B_000020 - - - - Unknown - - - 0 - Johan den Dunnen
+/. 6 c.485A>C - r.(?) p.(Lys162Thr) g.51517505A>C g.50943369A>C - - RNASEH2B_000001 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 6 c.485A>C - r.(?) p.(Lys162Thr) g.51517505A>C g.50943369A>C - - RNASEH2B_000001 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 6 c.488C>T pathogenic (recessive) r.(?) p.(Thr163Ile) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.488C>T - r.(?) p.(Thr163Ile) g.51517508C>T g.50943372C>T - - RNASEH2B_000021 - - - - Unknown - - - 0 - Johan den Dunnen
+/. 6 c.488C>T - r.(?) p.(Thr163Ile) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 6 c.488C>T pathogenic (recessive) r.(?) p.(Thr163Ile) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.488C>T pathogenic (recessive) r.(?) p.(Thr163Ile) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+?/. 6 c.498G>T - r.(?) p.(Trp166Cys) g.51517518G>T g.50943382G>T - - RNASEH2B_000026 - - - - Germline - - - 0 - Lampros Mavrogiannis
+?/+? 6i c.510+1G>A - r.spl? p.(=) g.51517531G>A g.50943395G>A - - RNASEH2B_000040 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 6i c.510+1G>A - r.spl? p.(=) g.51517531G>A g.50943395G>A - - RNASEH2B_000040 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+/. - c.510+1G>A pathogenic (recessive) r.spl p.? g.51517531G>A - - - RNASEH2B_000040 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+?/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 ClinVar-1262 Rump et al accepted for publication in BMC Medical Genomics - rs75184679 Germline yes 1/38 patients - 0 - Birgit Sikkema-Raddatz
+/. 7 c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000008 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000010 heterozygous mutation de novo - - - De novo - - - 0 - Johan den Dunnen
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000022 - - - - Unknown - - - 0 - Johan den Dunnen
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 single heterozygous mutation after partial testing - second remains uncharacterised - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 homozygosity for the TREX1 mutation c.341G>A as well, sufficient to be causative - unclear significance of RNASEH2B finding - - - Germline - - - 0 - Lampros Mavrogiannis
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+/. 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - Lampros Mavrogiannis
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+?/+? 7 c.529G>A - r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - Johan den Dunnen
+/. - c.529G>A pathogenic r.(?) p.(Ala177Thr) g.51519581G>A - RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.529G>A pathogenic r.(?) p.(Ala177Thr) g.51519581G>A - RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.529G>A pathogenic r.(?) p.(Ala177Thr) g.51519581G>A - RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A - - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A - - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A - - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.529G>A pathogenic (recessive) r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - Johan den Dunnen
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