Variant #0000473809 (NC_000016.9:g.14020545_14020546del, NM_005236.2:c.516_517del (ERCC4))

Individual ID 00230641
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.14020545_14020546del
DNA change (hg38) g.13926688_13926689del
Published as 516_517delTA
ISCN -
DB-ID ERCC4_000035
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2019-04-17 11:01:04 +02:00 (CEST)
Date last edited 2019-04-18 11:59:50 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
ERCC4 NM_005236.2 +/. - c.516_517del r.(?) p.(Thr173Trpfs*37) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000231737 DNA SEQ - - - 1 IMGAG


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