Genomic variant #0000033499

Individual ID 00017851
Chromosome 13
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.49039095dup
Reference -
DB-ID RB1_000022 See all 52 reported entries
dbSNP ID -
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 0.00904
Allele Count 52
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 ?/? - c.2212-39dup r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001970 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou