Genomic variant #0000004129

Individual ID 00016380
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.48939097G>A
Reference -
DB-ID RB1_000009 See all 2 reported entries
dbSNP ID -
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00048
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RB1 NM_000321.2 ./. - c.929G>A r.(?) p.(Gly310Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000101 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou