Variant #0000808280 (NC_000017.10:g.7606723G>A, TP53(NM_000546.5):c.-16057C>T)

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.7606723G>A
DNA change (hg38) -
Published as WRAP53(NM_001143990.1):c.1566G>A (p.(Ala522=)), WRAP53(NM_018081.2):c.1566G>A (p.A522=)
ISCN -
DB-ID WRAP53_000016 See all 3 reported entries
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) 0.00179 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TP53 NM_000546.5 -?/. - c.-16057C>T r.(?) p.(=)
WRAP53 NM_001143992.1 -?/. - c.1566G>A r.(?) p.(Ala522=)
EFNB3 NM_001406.3 -?/. - c.-2194G>A r.(?) p.(=)