Variant #0000673841 (NC_000016.9:g.14029554C>T, ERCC4(NM_005236.2):c.1765C>T)

Individual ID 00306122
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.14029554C>T
DNA change (hg38) g.13935697C>T
Published as -
ISCN -
DB-ID ERCC4_000052 See all 4 reported entries
Variant remarks -
Reference PubMed: Kashiyama 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
ERCC4 NM_005236.2 +/. - c.1765C>T r.1765c>u p.Arg589Trp -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307252 DNA;RNA RT-PCR;SEQ - - ERCC4 2 Johan den Dunnen