Variant #0000055899 (NC_000011.9:g.2906488_2906509del, CDKN1C(NM_000076.2):c.211_232del)

Individual ID 00029770
Chromosome 11
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906488_2906509del
DNA change (hg38) g.2885258_2885279del
Published as hg 38 g.2885279_2885258del21
ISCN -
DB-ID CDKN1C_000052
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvia Russo
Database submission license No license selected
Created by Silvia Russo
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CDKN1C NM_000076.2 ?/. 1 c.211_232del r.(?) p.(Leu71Serfs*194) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029813 DNA SEQ - - CDKN1C 1 Silvia Russo