Genomic variant #0000023119

Individual ID 00017328
Chromosome 1
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.161326488C>A
Reference -
DB-ID SDHC_000019 See all 9 reported entries
dbSNP ID  rs778212096
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 0.00152
Allele Count 9
Allele Number 5904
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHC NM_001035511.1 ?/? - c.242-5631C>A r.(=) p.(=)
SDHC NM_001035512.1 ?/? - c.161C>A r.(?) p.(Ser54*)
SDHC NM_001035513.1 ?/? - c.104C>A r.(?) p.(Ser35*)
SDHC NM_001278172.1 ?/? - c.140-5631C>A r.(=) p.(=)
SDHC NM_003001.3 ?/? - c.263C>A r.(?) p.(Ser88*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000987 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou