Genomic variant #0000034770

Individual ID 00021796
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.50813626C>T
Reference -
DB-ID CYLD_000037
dbSNP ID rs149427272
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.1180C>T r.(?) p.(Arg394Cys)
CYLD NM_001042412.1 ?/? - c.1180C>T r.(?) p.(Arg394Cys)
CYLD NM_015247.2 ?/? - c.1189C>T r.(?) p.(Arg397Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002082 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou