Genomic variant #0000002665

Individual ID 00016309
Chromosome 11
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.111965555A>G
Reference -
DB-ID SDHD_000002
dbSNP ID -
Variant remarks -
Genetic origin -
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 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHD NM_001276503.1 ./. - c.196A>G r.(?) p.(Met66Val)
SDHD NM_001276504.1 ./. - c.224A>G r.(?) p.(Tyr75Cys)
SDHD NM_001276506.1 ./. - c.*39A>G r.(=) p.(=)
SDHD NM_003002.3 ./. - c.341A>G r.(?) p.(Tyr114Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000065 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou