Genomic variant #0000026273

Individual ID 00020679
Chromosome 10
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.72360140C>T
Reference -
DB-ID PRF1_000005 See all 13 reported entries
dbSNP ID rs112883709
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 0.00226
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRF1 NM_001083116.1 -?/-? - c.519G>A r.(=) p.(=)
PRF1 NM_005041.4 -?/-? - c.519G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001322 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou