Genomic variant #0000025113

Individual ID 00017541
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.161298222G>C
Reference -
DB-ID SDHC_000022
dbSNP ID rs868556406
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 0.00017
Allele Count 1
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.114G>C r.(?) p.(Met38Ile)
SDHC NM_001035512.1 ?/? - c.77+4762G>C r.(=) p.(=)
SDHC NM_001035513.1 ?/? - c.21-12162G>C r.(=) p.(=)
SDHC NM_001278172.1 ?/? - c.77+4762G>C r.(=) p.(=)
SDHC NM_003001.3 ?/? - c.114G>C r.(?) p.(Met38Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001188 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou