Genomic variant #0000039426

Individual ID 00020852
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.17371319C>T
Reference Andrews et al (2018)   Kim et al (2015)
DB-ID SDHB_000036 See all 9 reported entries
dbSNP ID rs772551056
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 Variant not found in online data sets
Allele Count 0
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.137G>A r.(?) p.(Arg46Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006770 DNA SEQ 0 SDHB 1 Despoina Kalfakakou