Genomic variant #0000014720

Individual ID 00019706
Chromosome 13
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.103528048C>T
Reference -
DB-ID ERCC5_000032 See all 2 reported entries
dbSNP ID rs2227871
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     
ERCC5 NM_000123.3 -/- - c.3356C>T r.(?) p.(Ala1119Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000379 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou