Variant #0000624552 (NC_000023.10:g.20173554G>T, RPS6KA3(NM_004586.2):c.2185C>A)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.20173554G>T
DNA change (hg38) g.20155436G>T
Published as RPS6KA3(NM_004586.2):c.2185C>A (p.R729=)
ISCN -
DB-ID RPS6KA3_000048
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPS6KA3 NM_004586.2 -?/. - c.2185C>A r.(?) p.(Arg729=)