Genomic variant #0000027330

Individual ID 00020763
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.72358811G>T
Reference -
DB-ID PRF1_000034
dbSNP ID rs751247865
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 0.00017
Allele Count 1
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.666C>A r.(?) p.(His222Gln)
PRF1 NM_005041.4 +/+ - c.666C>A r.(?) p.(His222Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001413 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou