Genomic variant #0000028932

Individual ID 00020873
Chromosome 13
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.49039375G>A
Reference -
DB-ID RB1_000024 See all 4 reported entries
dbSNP ID rs748094394
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 0.0007
Allele Count 4
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.2360G>A r.(?) p.(Arg787Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001553 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou