Genomic variant #0000009190

Individual ID 00016542
Chromosome 19
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45860724G>A
Reference -
DB-ID ERCC2_000022 See all 2 reported entries
dbSNP ID rs370862494
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 0.00035
Allele Count 2
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.1377+8C>T r.(=) p.(=)
ERCC2 NM_001130867.1 -?/-? - c.*1394C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000245 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou