Genomic variant #0000026758

Individual ID 00020743
Chromosome 10
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.104359271G>A
Reference -
DB-ID SUFU_000013 See all 7 reported entries
dbSNP ID rs141359583
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 0.00122
Allele Count 7
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_001178133.1 ?/? - c.992G>A r.(?) p.(Arg331Gln)
SUFU NM_016169.3 ?/? - c.992G>A r.(?) p.(Arg331Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001362 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou