Full data view for gene ERCC8

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

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Disease     

ID_report     

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Owner     
-/. - c.-307C>T r.(?) p.(=) Unknown - benign g.60241142G>A g.60945315G>A NDUFAF2(NM_174889.4):c.60G>A (p.K20=) - ERCC8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.37G>T r.(?) p.(Glu13*) Both (homozygous) ACMG likely pathogenic g.60240799C>A g.60944972C>A - - ERCC8_000028 Cao et al. 2004. J 49: 61 - - rs121434324 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
+?/. 4 c.295_297delinsTG r.(?) p.(Arg99Cysfs*26) Both (homozygous) - likely pathogenic 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 r.(?) p.(Val105ThrfsTer6) Unknown - pathogenic g.60214178_60214179del g.60918351_60918352del ERCC8(NM_001007233.2):c.139_140delGT (p.V47Tfs*6) - ERCC8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316C>T r.(?) p.(Gln106Ter) Unknown - pathogenic g.60214175G>A g.60918348G>A ERCC8(NM_000082.3):c.316C>T (p.Q106*) - ERCC8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.317_320dup r.(?) p.(Trp107Ter) Unknown - pathogenic g.60214171_60214174dup g.60918344_60918347dup ERCC8(NM_001007233.2):c.143_146dupAGTG (p.W49*) - ERCC8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363T>C r.(?) p.(Asp121=) Unknown - likely benign g.60214128A>G g.60918301A>G ERCC8(NM_000082.3):c.363T>C (p.D121=) - ERCC8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.427del r.(?) p.(Thr143Glnfs*17) Both (homozygous) ACMG likely pathogenic (recessive) g.60200673del g.60904846del - - ERCC8_000029 ACMG PVS1,PM2 PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - clinical WES ID 17DG0767 PubMed: Anazi 2017 familial M - - - - 0 - - 1 Johan den Dunnen
-/. - c.435T>C r.(?) p.(Tyr145=) Unknown - benign g.60200665A>G g.60904838A>G ERCC8(NM_000082.3):c.435T>C (p.Y145=) - ERCC8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. ? c.478G>A r.(?) p.(Ala160Thr) Unknown - pathogenic g.60200622C>T g.60904795C>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 r.(?) p.(Ala160Val) Unknown - pathogenic g.60200621G>A g.60904794G>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 r.(?) p.(Trp194Cys) Unknown - pathogenic g.60198304C>G g.60902477C>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 r.(?) p.(Leu202Ser) Unknown - pathogenic g.60198281A>G g.60902454A>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 r.(?) p.(Ala205Pro) Unknown - pathogenic g.60198273C>G g.60902446C>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 r.spl? p.? Unknown - pathogenic g.60194228C>T g.60898401C>T ERCC8(NM_000082.3):c.719-1G>A - ERCC8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.784A>G r.(?) p.(Thr262Ala) Unknown - VUS g.60194162T>C g.60898335T>C - - ERCC8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797A>G r.(?) p.(Asp266Gly) Unknown - pathogenic g.60194149T>C g.60898322T>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 r.(?) p.(Asp266Gly) Unknown - likely pathogenic g.60194149T>C g.60898322T>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 r.(?) p.(Asp266Gly) Unknown - pathogenic g.60194149T>C g.60898322T>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.839C>A r.(?) p.(Thr280Lys) Parent #1 - VUS g.60194107G>T g.60898280G>T - - ERCC8_000027 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61754098 Germline - 14/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 14 Mohammed Faruq
+?/. - c.843+5G>C r.spl? p.? Unknown - likely pathogenic g.60194098C>G g.60898271C>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) - likely benign 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 - likely benign 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 - likely benign g.60187976dup g.60892149dup 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 - likely benign g.60187501dup g.60891674dup 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 - likely benign g.60187501dup g.60891674dup 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 r.(?) p.(Cys339Tyr) Unknown - VUS g.60186741C>T g.60890914C>T - - ERCC8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. ? c.1083G>T r.(?) p.(Trp361Cys) Unknown - pathogenic g.60183306C>A g.60887479C>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 r.(?) p.(Val369Leu) Unknown - VUS g.60183284C>G g.60887457C>G ERCC8(NM_000082.3):c.1105G>C (p.(Val369Leu)) - ERCC8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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