Genomic variant #0000036019

Individual ID 00021875
Chromosome 10
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72358622_72358624del
Reference -
DB-ID PRF1_000040 See all 3 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 0.00052
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRF1 NM_001083116.1 ./. - c.853_855del r.(?) p.(Lys285del)
PRF1 NM_005041.4 ./. - c.853_855del r.(?) p.(Lys285del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002203 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou