Variant #0000726703 (NC_000017.10:g.7606721del, TP53(NM_000546.5):c.-16049del)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7606721del
DNA change (hg38) -
Published as WRAP53(NM_018081.2):c.1564delG (p.A522Rfs*26)
ISCN -
DB-ID EFNB3_000015
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 +/. - c.-16049del r.(?) p.(=)
WRAP53 NM_001143992.1 +/. - c.1564del r.(?) p.(Ala522Argfs*26)
EFNB3 NM_001406.3 +/. - c.-2196del r.(?) p.(=)