Genomic variant #0000040350

Individual ID 00021866
Chromosome 16
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.50784159G>A
Reference -
DB-ID CYLD_000012 See all 5 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 0.00087
Allele Count 5
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYLD NM_001042355.1 ?/? - c.504+46G>A r.(=) p.(=)
CYLD NM_001042412.1 ?/? - c.504+46G>A r.(=) p.(=)
CYLD NM_015247.2 ?/? - c.504+46G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007498 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou