Genomic variant #0000020241

Individual ID 00020066
Chromosome 1
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.17355075A>T
Reference -
DB-ID SDHB_000007 See all 17 reported entries
dbSNP ID rs190139590
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 0.00295
Allele Count 17
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.423+20T>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000717 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou