Variant #0000178823 (NC_000009.11:g.21971098del, CDKN2A(NM_000077.4):c.262del)

Individual ID 00111209
Chromosome 9
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.21971098del
DNA change (hg38) g.21971099del
Published as -
ISCN -
DB-ID CDKN2A_000092 See all 2 reported entries
Variant remarks The new reading frame ends in a STOP codon 57 positions downstream.; chimeric p14ARF-p16 protein
Reference PubMed: Harland 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDKN2A NM_000077.4 ?/? 2 c.262del r.(?) p.Glu88fs
CDKN2A NM_058195.3 ?/? - c.305del r.(?) p.(Gly102GlufsTer70)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111771 DNA SEQ - - CDKN2A 1 Johan den Dunnen