Variant #0000301506 (NC_000023.10:g.20179799_20179800del, RPS6KA3(NM_004586.2):c.1921_1922del)

Chromosome X
Allele Unknown
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.20179799_20179800del
DNA change (hg38) g.20161681_20161682del
Published as RPS6KA3(NM_004586.3):c.1921_1922delAG (p.S641Wfs*72)
ISCN -
DB-ID RPS6KA3_000009
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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPS6KA3 NM_004586.2 +/. - c.1921_1922del r.(?) p.(Ser641TrpfsTer72)