Variant #0000393281 (NC_000023.10:g.20173571C>T, RPS6KA3(NM_004586.2):c.2168G>A)

Individual ID 00172541
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.20173571C>T
DNA change (hg38) g.20155453C>T
Published as R723H
ISCN -
DB-ID RPS6KA3_000036 See all 6 reported entries
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00157 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPS6KA3 NM_004586.2 ?/. - c.2168G>A r.(?) p.(Arg723His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173424 DNA SEQ - - USP11 1 Lucy Raymond