Variant #0000408752 (NC_000023.10:g.20222209T>A, RPS6KA3(NM_004586.2):c.256A>T)

Individual ID 00183661
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.20222209T>A
DNA change (hg38) g.20204091T>A
Published as -
ISCN -
DB-ID RPS6KA3_000039
Variant remarks -
Reference PubMed: Martinez 2017, Journal: Martinez 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPS6KA3 NM_004586.2 +/. 1 c.256A>T r.(?) p.(Lys86*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184629 DNA SEQ;SEQ-NG - 1256 gene panel RPS6KA3 1 Johan den Dunnen