Genomic variant #0000004969

Individual ID 00019246
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.50828088C>T
Reference -
DB-ID CYLD_000003 See all 29 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 0.00522
Allele Count 30
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.2461-35C>T r.(=) p.(=)
CYLD NM_001042412.1 ?/? - c.2461-35C>T r.(=) p.(=)
CYLD NM_015247.2 ?/? - c.2470-35C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000122 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou