Genomic variant #0000039335

Individual ID 00017540
Chromosome 10
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.72358622_72358624del
Reference -
DB-ID PRF1_000040 See all 3 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 0.00052
Allele Count 3
Allele Number 5752
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     
0000006958 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou