Genomic variant #0000043874

Individual ID 00022105
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.111958690C>A
Reference -
DB-ID SDHD_000016
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5904
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SDHD NM_001276503.1 ./. - c.162C>A r.(?) p.(Ser54Arg)
SDHD NM_001276504.1 ./. - c.53-901C>A r.(=) p.(=)
SDHD NM_001276506.1 ./. - c.162C>A r.(?) p.(Ser54Arg)
SDHD NM_003002.3 ./. - c.162C>A r.(?) p.(Ser54Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007603 DNA SEQ-NG-I 1 - 47 Stevi Xera