RPS6KB2-AS1

RPS6KB2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:67431367-67435399

Links

ENSG00000255949NCBI:111216279HGNC:53744GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPS6KB2-AS1 gene.

  • Inborn genetic diseases (27 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS6KB2-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
splice region
0
non coding
26
clinvar
2
clinvar
28
Total 0 0 27 2 0

Variants in RPS6KB2-AS1

This is a list of pathogenic ClinVar variants found in the RPS6KB2-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
11-67431368-G-A not specified Uncertain significance (Nov 09, 2022)2379918
11-67431402-A-G not specified Uncertain significance (Feb 23, 2023)2457412
11-67431408-G-A not specified Uncertain significance (Jul 27, 2021)2350224
11-67431455-G-A not specified Uncertain significance (Dec 21, 2022)2337904
11-67431465-A-G not specified Uncertain significance (Apr 27, 2022)2360661
11-67431513-G-A not specified Uncertain significance (Feb 15, 2023)2485054
11-67432652-G-A Likely benign (Nov 01, 2022)2642017
11-67432740-C-G not specified Uncertain significance (Nov 10, 2022)2376343
11-67432778-A-G not specified Uncertain significance (Mar 20, 2024)3315329
11-67432781-C-T not specified Uncertain significance (Dec 13, 2023)3156254
11-67432796-A-G not specified Uncertain significance (Mar 21, 2023)2527853
11-67432798-C-T not specified Uncertain significance (May 02, 2023)2520591
11-67432813-G-A not specified Uncertain significance (Jun 03, 2022)2401470
11-67433158-A-G not specified Uncertain significance (Jun 21, 2022)2205358
11-67433161-G-A not specified Uncertain significance (Aug 10, 2021)2242804
11-67433173-G-C Uncertain significance (Jan 17, 2024)3235839
11-67433199-G-A not specified Uncertain significance (Dec 20, 2021)2268484
11-67433382-A-T not specified Uncertain significance (May 23, 2023)2561323
11-67433409-C-T not specified Uncertain significance (Nov 07, 2023)3156256
11-67433422-C-T not specified Uncertain significance (Dec 09, 2023)3156257
11-67433430-C-G not specified Uncertain significance (Jan 04, 2024)3156258
11-67433990-C-T Likely benign (Nov 01, 2022)2642018
11-67433995-T-C not specified Uncertain significance (Dec 20, 2022)2337592
11-67434005-G-T RPS6KB2-related disorder Likely benign (Dec 27, 2022)3035014
11-67434050-A-T not specified Uncertain significance (Jun 22, 2021)2234165

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP