Genomic variant #0000022589

Individual ID 00017268
Chromosome 1
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.161326566A>T
Reference -
DB-ID SDHC_000017 See all 2 reported entries
dbSNP ID  rs386833413
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 0.00035
Allele Count 2
Allele Number 5756
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHC NM_001035511.1 -/- - c.242-5553A>T r.(=) p.(=)
SDHC NM_001035512.1 -/- - c.239A>T r.(?) p.(His80Leu)
SDHC NM_001035513.1 -/- - c.182A>T r.(?) p.(His61Leu)
SDHC NM_001278172.1 -/- - c.140-5553A>T r.(=) p.(=)
SDHC NM_003001.3 -/- - c.341A>T r.(?) p.(His114Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000936 DNA SEQ-NG-I 1 - 20 Despoina Kalfakakou