Variant #0000845056 (NC_000016.9:g.14041622C>A, NM_005236.2:c.2169C>A (ERCC4))

Individual ID 00406933
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.14041622C>A
DNA change (hg38) g.13947765C>A
Published as -
ISCN -
DB-ID ERCC4_000005 See all 4 reported entries
Variant remarks -
Reference PubMed: Jiang 2022
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/486 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-04-05 15:38:44 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
ERCC4 NM_005236.2 +/. - c.2169C>A r.(?) p.(Cys723Ter) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000408179 DNA SEQ-NG - 81-gene panel - 1 Johan den Dunnen


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