Genomic variant #0000487631

Individual ID 00240488
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.7579387C>A
DNA change (hg38) g.7676069C>A
Published as -
ISCN -
DB-ID TP53_010128 See all 2 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.300G>T pathogenic r.(?) p.(Gln100His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241598 DNA SEQ meningioma - TP53 4 Anja Bukovac