Variant #0000726699 (NC_000017.10:g.7604072G>A, TP53(NM_000546.5):c.-13406C>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.7604072G>A
DNA change (hg38) -
Published as WRAP53(NM_018081.2):c.656G>A (p.R219Q)
ISCN -
DB-ID EFNB3_000013
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) 1.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 ?/. - c.-13406C>T r.(?) p.(=)
WRAP53 NM_001143992.1 ?/. - c.656G>A r.(?) p.(Arg219Gln)
EFNB3 NM_001406.3 ?/. - c.-4845G>A r.(?) p.(=)