Variant #0000726700 (NC_000017.10:g.7604136A>G, TP53(NM_000546.5):c.-13470T>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7604136A>G
DNA change (hg38) -
Published as WRAP53(NM_018081.2):c.720A>G (p.P240=)
ISCN -
DB-ID EFNB3_000014
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) 0.00018 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 -?/. - c.-13470T>C r.(?) p.(=)
WRAP53 NM_001143992.1 -?/. - c.720A>G r.(?) p.(Pro240=)
EFNB3 NM_001406.3 -?/. - c.-4781A>G r.(?) p.(=)