Variant #0000408045 (NC_000023.10:g.20183151T>C, RPS6KA3(NM_004586.2):c.1630A>G)

Individual ID 00183118
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.20183151T>C
DNA change (hg38) g.20165033T>C
Published as RPS6KA3 N544D
ISCN -
DB-ID RPS6KA3_000037
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 ./. - c.1630A>G r.(?) p.(Asn544Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184076 DNA SEQ;SEQ-NG - WES-X chromosome RPS6KA3 1 Johan den Dunnen