Variant #0000036236 (NC_000011.9:g.2906120_2906131del, CDKN1C(NM_000076.2):c.600_611del)

Individual ID 00016477
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906120_2906131del
DNA change (hg38) g.2884890_2884901del
Published as PAPA 200-203 del
ISCN -
DB-ID CDKN1C_000047
Variant remarks -
Reference PubMed: Tokino 1996
ClinVar ID -
dbSNP ID -
Origin Not applicable
Segregation -
Frequency 1/22 chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CDKN1C NM_000076.2 ?/? 1 c.600_611del r.(?) p.(Ala213_Pro216del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016419 DNA SEQ;SSCA - - CDKN1C 1 Johan den Dunnen