Genomic variant #0000034479

Individual ID 00021779
Chromosome 19
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45868387del
Reference -
DB-ID ERCC2_000115
dbSNP ID -
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.390del r.(?) p.(Asp131Metfs*50)
ERCC2 NM_001130867.1 +?/+? - c.318del r.(?) p.(Asp107Metfs*50)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002057 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou