Genomic variant #0000019101

Individual ID 00016888
Chromosome 11
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958677A>G
Reference -
DB-ID SDHD_000003 See all 32 reported entries
dbSNP ID rs11214077
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 0.00559
Allele Count 33
Allele Number 5904
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     
0000000632 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou