Genomic variant #0000019540

Individual ID 00020022
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.128017009C>T
Reference -
DB-ID ERCC3_000009 See all 31 reported entries
dbSNP ID rs151216904
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00525
Allele Count 31
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERCC3 NM_000122.1 ?/? - c.2080G>A r.(?) p.(Ala694Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000667 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou