Genomic variant #0000021597

Individual ID 00017128
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.2905210_2905211insG
Reference -
DB-ID CDKN1C_000008 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 0.00069
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDKN1C NM_000076.2 ?/? - c.*5+18_*5+19insC r.(=) p.(=)
CDKN1C NM_001122630.1 ?/? - c.*5+18_*5+19insC r.(=) p.(=)
CDKN1C NM_001122631.1 ?/? - c.*5+18_*5+19insC r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000839 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou