Genomic variant #0000034524

Individual ID 00017922
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.104359297G>T
Reference -
DB-ID SUFU_000001 See all 44 reported entries
dbSNP ID rs34135067
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 0.00763
Allele Count 45
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_001178133.1 -?/-? - c.1018G>T r.(?) p.(Ala340Ser)
SUFU NM_016169.3 -?/-? - c.1018G>T r.(?) p.(Ala340Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002062 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou