Genomic variant #0000022291

Individual ID 00019453
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.45867799G>A
Reference -
DB-ID ERCC2_000031 See all 5 reported entries
dbSNP ID rs1799792
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 0.00087
Allele Count 5
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.601C>T r.(?) p.(His201Tyr)
ERCC2 NM_001130867.1 -?/-? - c.529C>T r.(?) p.(His177Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000902 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou