Genomic variant #0000033840

Individual ID 00017876
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.2906705G>A
Reference -
DB-ID CDKN1C_000023
dbSNP ID rs878853624
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     
CDKN1C NM_000076.2 -?/-? - c.15C>T r.(=) p.(=)
CDKN1C NM_001122630.1 -?/-? - c.-10-9C>T r.(=) p.(=)
CDKN1C NM_001122631.1 -?/-? - c.-10-9C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001996 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou