Genomic variant #0000043488

Individual ID 00022089
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.103527930G>C
Reference -
DB-ID ERCC5_000100 See all 74 reported entries
dbSNP ID rs9514067
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.02508
Allele Count 148
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERCC5 NM_000123.3 ./. - c.3238G>C r.(?) p.(Gly1080Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007587 DNA SEQ-NG-I 1 - 44 Stevi Xera