Variant #0000918160 (NC_000020.10:g.45318040_45318041dup, NM_033550.3:c.15_16dup (TP53RK))

Individual ID 00431207
Chromosome 20
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45318040_45318041dup
DNA change (hg38) g.46689401_46689402dup
Published as -
ISCN -
DB-ID TP53RK_000002 See all 3 reported entries
Variant remarks -
Reference PubMed: Chen 2023
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Min Peng
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Min Peng
Date created 2023-02-02 02:42:48 +01:00 (CET)
Date last edited 2025-03-06 15:47:30 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53RK NM_033550.3 +/. - c.15_16dup r.(?) p.(Ala6Glufs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000432621 DNA SEQ-NG - - TP53RK 2 Min Peng


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