Genomic variant #0000043647

Individual ID 00022096
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380497G>T
Reference -
DB-ID SDHB_000037 See all 74 reported entries
dbSNP ID rs2746462
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.02471
Allele Count 146
Allele Number 5908
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHB NM_003000.2 ./. - c.18C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007594 DNA SEQ-NG-I 1 - 37 Stevi Xera