Variant #0000342787 (NC_000017.10:g.7605865C>T, TP53(NM_000546.5):c.-15199G>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7605865C>T
DNA change (hg38) g.7702547C>T
Published as -
ISCN -
DB-ID WRAP53_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 +?/. - c.-15199G>A r.(?) p.(=)
WRAP53 NM_001143992.1 +?/. - c.1159C>T r.(?) p.(Arg387Cys)
EFNB3 NM_001406.3 +?/. - c.-3052C>T r.(?) p.(=)