Genomic variant #0000033636

Individual ID 00017861
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.2906188_2906189insGACCGC
Reference -
DB-ID CDKN1C_000003 See all 4 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 0.0007
Allele Count 4
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDKN1C NM_000076.2 ?/? - c.531_532insGCGGTC r.(?) p.(Ala176_Val177dup)
CDKN1C NM_001122630.1 ?/? - c.498_499insGCGGTC r.(?) p.(Ala165_Val166dup)
CDKN1C NM_001122631.1 ?/? - c.498_499insGCGGTC r.(?) p.(Ala165_Val166dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001980 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou