Genomic variant #0000027202

Individual ID 00020620
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.111958677A>G
Reference -
DB-ID SDHD_000003 See all 31 reported entries
dbSNP ID rs11214077
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00554
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHD NM_001276503.1 ./. - c.149A>G r.(?) p.(His50Arg)
SDHD NM_001276504.1 ./. - c.53-914A>G r.(=) p.(=)
SDHD NM_001276506.1 ./. - c.149A>G r.(?) p.(His50Arg)
SDHD NM_003002.3 ./. - c.149A>G r.(?) p.(His50Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001400 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou