Variant #0000040539 (NC_000016.9:g.14041824_14041851dup, NM_005236.2:c.2371_2398dup (ERCC4))

Individual ID 00020019
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.14041824_14041851dup
DNA change (hg38) g.13947967_13947994dup
Published as 2371_2398dup28
ISCN -
DB-ID ERCC4_000004
Variant remarks -
Reference PubMed: Bogliolo 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Arleen D. Auerbach
Database submission license No license selected
Created by Arleen D. Auerbach
Date created 2013-06-19 04:23:32 +02:00 (CEST)
Date last edited 2014-10-03 21:58:05 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
ERCC4 NM_005236.2 +/+ 11 c.2371_2398dup r.(?) p.(Ile800Thrfs*24) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020016 DNA SEQ - - ERCC4 2 Arleen D. Auerbach


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