Genomic variant #0000024402

Individual ID 00017463
Chromosome 19
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45867145G>A
Reference -
DB-ID ERCC2_000068
dbSNP ID rs530045760
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERCC2 NM_000400.3 ?/? - c.974C>T r.(?) p.(Thr325Met)
ERCC2 NM_001130867.1 ?/? - c.902C>T r.(?) p.(Thr301Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001123 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou