GeneBe

TMEM139-AS1

TMEM139 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:143255264-143287997

Links

ENSG00000231840 ∙ NCBI:105375545 ∙ ∙ HGNC:40988 ∙ ∙ ∙ 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 TMEM139-AS1 gene.

  • Inborn genetic diseases (20 variants)
  • not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM139-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
19
clinvar
3
clinvar
2
clinvar
 24
Total 0 0 19 3 2

Variants in TMEM139-AS1

This is a list of pathogenic ClinVar variants found in the TMEM139-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
7-143263526-C-T not specified Uncertain significance (Oct 13, 2023)3102971
7-143263530-G-C not specified Uncertain significance (Feb 13, 2023)2483076
7-143263533-C-T not specified Uncertain significance (May 26, 2022)2309543
7-143263573-G-T not specified Uncertain significance (Apr 07, 2022)2224927
7-143264574-C-T not specified Uncertain significance (Jul 20, 2021)2238993
7-143264586-T-C not specified Uncertain significance (Jul 11, 2023)2599508
7-143264596-A-G not specified Uncertain significance (Feb 12, 2024)3102972
7-143264999-G-T not specified Uncertain significance (Sep 28, 2022)2371475
7-143265021-G-A not specified Uncertain significance (Jan 30, 2024)3102973
7-143265057-G-C not specified Uncertain significance (May 18, 2023)2511336
7-143265058-C-T not specified Likely benign (Apr 07, 2022)3102974
7-143265090-A-G Likely benign (Aug 07, 2018)708871
7-143265225-C-G not specified Uncertain significance (Mar 06, 2023)2494387
7-143267633-G-A not specified Uncertain significance (Nov 29, 2023)3102975
7-143268111-C-T Benign (Mar 29, 2018)726354
7-143268160-A-C not specified Uncertain significance (Apr 23, 2024)3283015
7-143268173-C-T not specified Uncertain significance (Mar 26, 2024)3283016
7-143268784-C-G Benign (Mar 29, 2018)776267
7-143268820-G-A not specified Uncertain significance (May 18, 2023)2549525
7-143285995-C-T not specified Uncertain significance (Nov 03, 2022)2322373
7-143286055-C-T not specified Uncertain significance (Apr 12, 2023)2508453
7-143286104-C-G not specified Uncertain significance (Jan 08, 2024)3178797
7-143286140-G-C not specified Likely benign (Jul 12, 2023)2610908
7-143286151-C-G not specified Uncertain significance (Feb 07, 2023)2482231
7-143286180-C-G not specified Uncertain significance (Oct 12, 2022)2318193

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP