Genomic variant #0000022884

Individual ID 00017295
Chromosome 11
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.2905204_2905205insCC
Reference -
DB-ID CDKN1C_000002 See all 7 reported entries
dbSNP ID rs34289096
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 0.00122
Allele Count 7
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.*5+24_*5+25insGG r.(=) p.(=)
CDKN1C NM_001122630.1 -?/-? - c.*5+24_*5+25insGG r.(=) p.(=)
CDKN1C NM_001122631.1 -?/-? - c.*5+24_*5+25insGG r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000965 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou