Genomic variant #0000000611

Individual ID 00000052
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00077 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
ERCC4 NM_005236.2 ?/. 11 c.2395C>T - r.(?) p.(Arg799Trp) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000052 DNA SEQ-NG - - ARSB, DPYD, ERCC4, ETFB, NPHS1 5 LOVD-team, but with Curator vacancy