GeneBe

GNG12-AS1

GNG12, DIRAS3 and WLS antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:67832193-68202987

Links

ENSG00000232284 ∙ NCBI:100289178 ∙ OMIM:615406 ∙ HGNC:43938 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GNG12-AS1 gene.

  • Inborn genetic diseases (30 variants)
  • Zaki syndrome (7 variants)
  • WLS syndrome (4 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNG12-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)
0
splice region
0
non coding
2
clinvar
2
clinvar
31
clinvar
1
clinvar
2
clinvar
 38
Total 2 2 31 1 2

Highest pathogenic variant AF is 0.0000460

Variants in GNG12-AS1

This is a list of pathogenic ClinVar variants found in the GNG12-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
1-68046648-T-C not specified Uncertain significance (Apr 11, 2023)2550059
1-68046705-T-C not specified Uncertain significance (Sep 13, 2023)2603607
1-68046751-T-C not specified Uncertain significance (Aug 13, 2021)2245171
1-68046778-T-G not specified Uncertain significance (Feb 06, 2024)3082542
1-68046785-C-T not specified Uncertain significance (Jun 27, 2023)2595912
1-68046792-C-T not specified Likely benign (Mar 15, 2024)3272129
1-68046913-C-T not specified Uncertain significance (Jun 08, 2022)2242036
1-68046942-G-C not specified Uncertain significance (May 07, 2024)3272134
1-68046993-T-C not specified Uncertain significance (Apr 08, 2024)3272132
1-68047002-C-A not specified Uncertain significance (Aug 02, 2021)2241036
1-68047091-G-A DIRAS3-related disorder Likely benign (May 16, 2022)3032282
1-68047156-C-T not specified Uncertain significance (Apr 13, 2023)2536683
1-68047207-G-A not specified Likely benign (Dec 08, 2021)2263012
1-68047219-G-C not specified Uncertain significance (May 21, 2024)3272135
1-68047246-G-A not specified Uncertain significance (Apr 09, 2024)3272133
1-68047263-T-C not specified Uncertain significance (Dec 21, 2022)2216535
1-68047288-C-A not specified Likely benign (May 30, 2024)3272131
1-68098709-CA-C WLS-related disorder Benign (Jul 04, 2018)756682
1-68126246-G-A WLS syndrome • Zaki syndrome Likely pathogenic (Apr 21, 2021)1098570
1-68126260-A-G WLS syndrome • Zaki syndrome Likely pathogenic (Apr 21, 2021)1098569
1-68137782-T-C not specified • Zaki syndrome Uncertain significance (May 29, 2024)2389247
1-68137795-C-G not specified Uncertain significance (Jun 28, 2022)2298525
1-68137800-T-C not specified Uncertain significance (Jul 28, 2021)2225415
1-68137829-C-T not specified Uncertain significance (Jan 03, 2022)2400976
1-68137846-A-G not specified Uncertain significance (Jul 20, 2022)2302509

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP