Genomic variant #0000487665

Individual ID 00240504
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7579501del
DNA change (hg38) g.7676183del
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241613 DNA SEQ meningioma - TP53 2 Anja Bukovac