Genomic variant #0000489044

Individual ID 00241242
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7579502del
DNA change (hg38) g.7676184del
Published as 186delA
ISCN -
DB-ID TP53_010141 See all 11 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anja Bukovac
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 +?/. 4 c.186del r.(?) p.(Ala63Leufs*60)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000242354 DNA SEQ meningioma - TP53 2 Anja Bukovac