Genomic variant #0000044034

Individual ID 00022109
Chromosome 13
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.103498672C>T
Reference -
DB-ID ERCC5_000012 See all 36 reported entries
dbSNP ID rs34291397
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.0061
Allele Count 36
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERCC5 NM_000123.3 ./. - c.56C>T r.(?) p.(Pro19Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007607 DNA SEQ-NG-I 1 - 35 Stevi Xera