Variant #0000652869 (NC_000023.10:g.20190912_20190915del, RPS6KA3(NM_004586.2):c.1304_1307del)

Individual ID 00295012
Chromosome X
Allele Parent #1
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.20190912_20190915del
DNA change (hg38) g.20172794_20172797del
Published as -
ISCN -
DB-ID RPS6KA3_000054
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs797045920
Origin Germline
Segregation -
Frequency 1/2784 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
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.1304_1307del r.(?) p.(Val435Alafs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296180 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq