Genomic variant #0000023541

Individual ID 00017362
Chromosome 16
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.50813997G>T
Reference -
DB-ID CYLD_000024
dbSNP ID rs17222902
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 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYLD NM_001042355.1 -?/-? - c.1509+42G>T r.(=) p.(=)
CYLD NM_001042412.1 -?/-? - c.1509+42G>T r.(=) p.(=)
CYLD NM_015247.2 -?/-? - c.1518+42G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001031 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou