Full data view for gene ERCC2

Information The variants shown are described using the NM_000400.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.2047C>T r.(?) p.(Arg683Trp) Unknown - pathogenic g.45855610G>A g.45352352G>A - - ERCC2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP109BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP87BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP70BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP16BR24 PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP71BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP17BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XPJCLO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Both (homozygous) - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP135LO-S PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Both (homozygous) - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP135LO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610C>T g.45352352C>T 2047G>A (Arg683Trp) - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP104LO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2047C>T r.(?) p.(Arg683Trp) Parent #1 - pathogenic (recessive) g.45855610G>A g.45352352G>A - - ERCC2_000083 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP59BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
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