Genomic variant #0000024430

Individual ID 00017467
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.161326532G>C
Reference -
DB-ID SDHC_000015 See all 13 reported entries
dbSNP ID -
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 0.0022
Allele Count 13
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.242-5587G>C r.(=) p.(=)
SDHC NM_001035512.1 ?/? - c.205G>C r.(?) p.(Val69Leu)
SDHC NM_001035513.1 ?/? - c.148G>C r.(?) p.(Val50Leu)
SDHC NM_001278172.1 ?/? - c.140-5587G>C r.(=) p.(=)
SDHC NM_003001.3 ?/? - c.307G>C r.(?) p.(Val103Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001126 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou