Variant #0000019234 (NC_000016.9:g.14041744del, ERCC4(NM_005236.2):c.2291del)

Individual ID 00001654
Chromosome 16
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.14041744del
DNA change (hg38) g.13947887del
Published as -
ISCN -
DB-ID ERCC4_000012
Variant remarks not in 1573 cases
Reference PubMed: Osorio 2013, Journal: Osorio 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/854 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Ana Osorio
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Ana Osorio
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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.2291del r.(?) p.(Ser764Thrfs*53) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001456 DNA DHPLC;SEQ - - ERCC4 1 Ana Osorio