Full data view for gene ERCC8

Information The variants shown are described using the NM_000082.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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Panel size     

Owner     
-/. - c.-307C>T benign r.(?) p.(=) Unknown g.60241142G>A - NDUFAF2(NM_174889.4):c.60G>A (p.K20=) - ERCC8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.295_297delinsTG - r.(?) p.(Arg99Cysfs*26) Both (homozygous) g.60214194_60214196delinsCA g.60918367_60918369delinsCA - - ERCC8_000012 - Rump et al accepted for publication in BMC Medical Genomics - - Germline yes 1/38 patients - 0 - DNA SEQ-NG-I DNA isolated from blood - CSA - - - M yes ? (unknown) - - 0 - - 1 Birgit Sikkema-Raddatz
+/. - c.313_314del pathogenic r.(?) p.(Val105Thrfs*6) Unknown g.60214178_60214179del - ERCC8(NM_001007233.2):c.139_140delGT (p.V47Tfs*6) - ERCC8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316C>T pathogenic r.(?) p.(Gln106*) Unknown g.60214175G>A - ERCC8(NM_000082.3):c.316C>T (p.Q106*) - ERCC8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.317_320dup pathogenic r.(?) p.(Trp107*) Unknown g.60214171_60214174dup - ERCC8(NM_001007233.2):c.143_146dupAGTG (p.W49*) - ERCC8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363T>C likely benign r.(?) p.(=) Unknown g.60214128A>G - ERCC8(NM_000082.3):c.363T>C (p.D121=) - ERCC8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.435T>C benign r.(?) p.(=) Unknown g.60200665A>G - ERCC8(NM_000082.3):c.435T>C (p.Y145=) - ERCC8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. ? c.478G>A pathogenic r.(?) p.(Ala160Thr) Unknown g.60200622C>T - - - ERCC8_000002 submitted through SIB; ExPASy_063507 PubMed: Laugel et al (2010) - - Germline - - - 0 - DNA SEQ - - CS - PubMed: Laugel et al (2010) - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. ? c.479C>T pathogenic r.(?) p.(Ala160Val) Unknown g.60200621G>A - - - ERCC8_000006 submitted through SIB; ExPASy_025380 PubMed: Ridley et al (2005) - - Germline - - - 0 - DNA SEQ - - CS - PubMed: Ridley et al (2005) - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. ? c.582G>C pathogenic r.(?) p.(Trp194Cys) Unknown g.60198304C>G - - - ERCC8_000003 submitted through SIB; ExPASy_063508 PubMed: Laugel et al (2010) - - Germline - - - 0 - DNA SEQ - - CS - PubMed: Laugel et al (2010) - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. ? c.605T>C pathogenic r.(?) p.(Leu202Ser) Unknown g.60198281A>G - - - ERCC8_000004 submitted through SIB; ExPASy_063509 PubMed: Laugel et al (2010) - - Germline - - - 0 - DNA SEQ - - CS - PubMed: Laugel et al (2010) - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. ? c.613G>C pathogenic r.(?) p.(Ala205Pro) Unknown g.60198273C>G - - - ERCC8_000007 submitted through SIB; ExPASy_025381 PubMed: Cao et al (2004) - - Germline - - - 0 - DNA SEQ - - CS - PubMed: Cao et al (2004) - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.719-1G>A pathogenic r.spl? p.? Unknown g.60194228C>T - ERCC8(NM_000082.3):c.719-1G>A - ERCC8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.784A>G VUS r.(?) p.(Thr262Ala) Unknown g.60194162T>C - - - ERCC8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797A>G pathogenic r.(?) p.(Asp266Gly) Unknown g.60194149T>C - ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_001007233.2):c.623A>G (p.D208G) - ERCC8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.797A>G likely pathogenic r.(?) p.(Asp266Gly) Unknown g.60194149T>C - ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_001007233.2):c.623A>G (p.D208G) - ERCC8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. ? c.797A>G pathogenic r.(?) p.(Asp266Gly) Unknown g.60194149T>C - - - ERCC8_000005 submitted through SIB; ExPASy_063510 PubMed: Laugel et al (2010) - - Germline - - - 0 - DNA SEQ - - CS - PubMed: Laugel et al (2010) - - - - - - 0 - - 1 SIB - Livia Famiglietti
+?/. - c.843+5G>C likely pathogenic r.spl? p.? Unknown g.60194098C>G - ERCC8(NM_000082.3):c.843+5G>C - ERCC8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 9i c.844-1309G>A - r.(?) p.(=) Both (homozygous) g.60188222C>T g.60892395C>T - - ERCC8_000009 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 9i c.844-1309G>A - r.(?) p.(=) Unknown g.60188222C>T g.60892395C>T - - ERCC8_000009 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 9i c.844-1055dup - r.(?) p.(=) Unknown g.60187968dup g.60892141dup 844-1055_844-1054insA - ERCC8_000010 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 9i c.844-577dup - r.(?) p.(=) Unknown g.60187490dup g.60891663dup 844-577_844-576insA - ERCC8_000011 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 9i c.844-577dup - r.(=) p.(=) Unknown g.60187490dup g.60891663dup 844-577_844-576insA - ERCC8_000011 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1016G>A VUS r.(?) p.(Cys339Tyr) Unknown g.60186741C>T - - - ERCC8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. ? c.1083G>T pathogenic r.(?) p.(Trp361Cys) Unknown g.60183306C>A - - - ERCC8_000001 submitted through SIB; ExPASy_068177 PubMed: Nardo et al (2009) - - Germline - - - 0 - DNA SEQ - - UVSS - PubMed: Nardo et al (2009) - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.1105G>C VUS r.(?) p.(Val369Leu) Unknown g.60183284C>G - ERCC8(NM_000082.3):c.1105G>C (p.(Val369Leu)) - ERCC8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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