Genomic variant #0000002665

Individual ID 00016309
Chromosome 11
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.111965555A>G
Reference Andrews et al (2018) 
DB-ID SDHD_000002
dbSNP ID rs104894304
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     
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