Variant #0000665338 (NC_000016.9:g.14041848C>T, NM_005236.2:c.2395C>T (ERCC4))

Individual ID 00301100
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.14041848C>T
DNA change (hg38) g.13947991C>T
Published as -
ISCN -
DB-ID ERCC4_000006 See all 17 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00049 View details
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2020-05-07 10:16:01 +02:00 (CEST)
Date last edited 2020-05-28 14:28:57 +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 +/. - c.2395C>T r.(?) p.(Arg799Trp) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000302222 DNA SEQ - - - 2 IMGAG


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