Variant #0000073949 (NC_000017.10:g.(7577609_7578176)_(7579941_7590694)dup, TP53(NM_000546.5):c.(-29+1_-28-1)_(672+1_673-1)dup)

Individual ID 00046320
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method kConFab
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(7577609_7578176)_(7579941_7590694)dup
DNA change (hg38) -
Published as P53 dup exons 2_6
ISCN -
DB-ID TP53_010009
Variant remarks -
Reference kConFab variant classification: LGR
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 1/1658
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner kConFab - Heather Thorne
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 +/+ 1i_6i c.(-29+1_-28-1)_(672+1_673-1)dup r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046425 DNA SEQ - - TP53 1 kConFab - Heather Thorne