Genomic variant #0000027820

Individual ID 00020779
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.111965600T>C
Reference -
DB-ID SDHD_000011
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 0.00017
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.241T>C r.(?) p.(Trp81Arg)
SDHD NM_001276504.1 ?/? - c.269T>C r.(?) p.(Leu90Ser)
SDHD NM_001276506.1 ?/? - c.*84T>C r.(=) p.(=)
SDHD NM_003002.3 ?/? - c.386T>C r.(?) p.(Leu129Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001455 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou