Genomic variant #0000040680

Individual ID 00021440
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118477367A>G
Reference -
DB-ID chr11_000047 See all 8 reported entries
dbSNP ID rs498872
Variant remarks -
Genetic origin -
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 0.00261
Allele Count 15
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007377 DNA SEQ-NG-I 1 - 48 Despoina Kalfakakou