Variant #0000036233 (NC_000011.9:g.2905211dup, NC_000011.9(NM_000076.2):c.*5+24dup (CDKN1C))

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2905211dup
DNA change (hg38) g.2883981dup
Published as -
ISCN -
DB-ID CDKN1C_000045 See all 3 reported entries
Variant remarks no effect on RNA expression measured
Reference PubMed: Lew 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.33 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
Date created 2014-04-22 23:24:50 +02:00 (CEST)
Date last edited 2024-04-09 07:55:16 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CDKN1C NM_000076.2 -/? 2i c.*5+24dup r.(=) p.= -


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.