Variant #0000129094 (NC_000011.9:g.[NC_000004.11:(183200001_185163006)_(190963006_qter)]delins(pter_180000)_(4143424_10700000)inv, CDKN1C(NM_000076.2):c.?_?ins-276_*703)

Individual ID 00080085
Chromosome 11
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.[NC_000004.11:(183200001_185163006)_(190963006_qter)]delins(pter_180000)_(4143424_10700000)inv
DNA change (hg38) -
Published as -
ISCN -
DB-ID CDKN1C_000110 See all 2 reported entries
Variant remarks unbalanced translocation, extra copy of chr11 sequences translocated to chr4, ICR1 and ICR2 affected
Reference for EUCID-SRS consortium
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Zeynep Tümer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CDKN1C NM_000076.2 +/. _1_3_ c.?_?ins-276_*703 r.? p.? -
IGF2 NM_000612.4 +/. _1_4_ c.?_?ins-752_*3870 r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080164 DNA microscope; FISH; MLPA; arrayCNV - - - 2 Zeynep Tümer