Variant #0000787372 (NC_000023.10:g.20173604C>T, RPS6KA3(NM_004586.2):c.2135G>A)

Individual ID 00374827
Chromosome X
Allele Parent #1
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.20173604C>T
DNA change (hg38) g.20155486C>T
Published as -
ISCN -
DB-ID RPS6KA3_000063
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID rs1017565774
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 ?/. 22 c.2135G>A r.(?) p.(Arg712His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376021 DNA SEQ-NG - TruSight One panel RPS6KA3 1 Johan den Dunnen