Variant #0000036206 (NC_000011.9:g.2906488G>A, CDKN1C(NM_000076.2):c.232C>T)

Individual ID 00016450
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906488G>A
DNA change (hg38) g.2885258G>A
Published as -
ISCN -
DB-ID CDKN1C_000019
Variant remarks -
Reference PubMed: Romanelli 2009
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Eamonn Maher
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.232C>T r.(?) p.(Q78*) I



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016392 DNA SEQ ? - CDKN1C 1 Eamonn Maher