Genomic variant #0000001102

Individual ID 00021048
Chromosome 8
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.90990521T>C
Reference -
DB-ID NBN_000003 See all 9 reported entries
dbSNP ID rs61754966
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00216
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NBN NM_002485.4 ./. - c.511A>G r.(?) p.(Ile171Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000028 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou