Variant #0000010258 (NC_000019.10:g.45357368G>C, ERCC2(NM_000400.4):c.1381C>G)

Individual ID 00002396
Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45357368G>C
Reference -
DB-ID ERCC2_000002
dbSNP ID rs121913016
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
ERCC2 NM_000400.4 +?/+? 15 c.1381C>G p.(Leu461Val) Hetero no r.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002655 DNA SEQ-NG Dasa Genómica - Genia Hereditary cancer panel (144 genes) 23-01-23 Multigenetic panel - 5 Pablo Kalfayan-Hospital Italiano