Genomic variant #0000039394

Individual ID 00020736
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.17349147_17349150del
Reference -
DB-ID SDHB_000035 See all 3 reported entries
dbSNP ID rs794728950
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 5760
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHB NM_003000.2 +/+ - c.718_721del r.(?) p.(Leu240Thrfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006705 DNA SEQ 1 SDHB 1 Despoina Kalfakakou