Genomic variant #0000024866

Individual ID 00017509
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.161326475C>T
Reference -
DB-ID SDHC_000018 See all 4 reported entries
dbSNP ID rs942160050
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 0.00069
Allele Count 4
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.242-5644C>T r.(=) p.(=)
SDHC NM_001035512.1 ?/? - c.148C>T r.(?) p.(Leu50Phe)
SDHC NM_001035513.1 ?/? - c.91C>T r.(?) p.(Leu31Phe)
SDHC NM_001278172.1 ?/? - c.140-5644C>T r.(=) p.(=)
SDHC NM_003001.3 ?/? - c.250C>T r.(?) p.(Leu84Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001165 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou