Genomic variant #0000489039

Individual ID 00241239
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.7579472G>C
DNA change (hg38) g.7676154G>C
Published as -
ISCN -
DB-ID TP53_010135 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.63004 View details
Owner Anja Bukovac
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TP53 NM_000546.5 +?/. 4 c.215G>C pathogenic r.(?) p.(Pro72Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000242351 DNA SEQ meningioma - TP53 1 Anja Bukovac