Variant #0000698332 (NC_000023.10:g.20181139T>C, RPS6KA3(NM_004586.2):c.1784A>G)

Individual ID 00315006
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.20181139T>C
DNA change (hg38) g.20163021T>C
Published as -
ISCN -
DB-ID RPS6KA3_000061
Variant remarks -
Reference PubMed: Squeo 2020
ClinVar ID -
dbSNP ID -
Origin Germline
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 +?/. 17 c.1784A>G r.(?) p.(Tyr595Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316182 DNA SEQ;SEQ-NG - 68-gene panel RPS6KA3 1 Johan den Dunnen