Variant #0000297745 (NC_000023.10:g.20173571C>T, RPS6KA3(NM_004586.2):c.2168G>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.20173571C>T
DNA change (hg38) g.20155453C>T
Published as RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)), RPS6KA3(NM_004586.3):c.2168G>A (p.R723H)
ISCN -
DB-ID RPS6KA3_000036 See all 6 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00157 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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