Genomic variant #0000040555

Individual ID 00020127
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.111959786A>T
Reference -
DB-ID SDHD_000005 See all 7 reported entries
dbSNP ID -
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 0.00122
Allele Count 7
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.169+1089A>T r.(=) p.(=)
SDHD NM_001276504.1 ?/? - c.197+51A>T r.(=) p.(=)
SDHD NM_001276506.1 ?/? - c.314+51A>T r.(=) p.(=)
SDHD NM_003002.3 ?/? - c.314+51A>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007075 DNA SEQ-NG-I 1 - 46 Despoina Kalfakakou