Variant #0000036203 (NC_000011.9:g.2906527_2906535del, CDKN1C(NM_000076.2):c.185_193del)

Individual ID 00016447
Chromosome 11
Allele Maternal (confirmed)
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.2906527_2906535del
DNA change (hg38) g.2885297_2885305del
Published as 185_193delATTACGACT
ISCN -
DB-ID CDKN1C_000016
Variant remarks variant 0/210 in controls
Reference PubMed: O’Keefe 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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.185_193del r.(?) p.(Asp62_Phe65delinsVal) I



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016389 DNA SEQ ? - CDKN1C 1 Eamonn Maher