TUBA1B-AS1

TUBA1B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:49127782-49188484

Links

ENSG00000258017NCBI:105369760HGNC:56356GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TUBA1B-AS1 gene.

  • Tubulinopathy (40 variants)
  • not provided (15 variants)
  • Lissencephaly due to TUBA1A mutation (15 variants)
  • Inborn genetic diseases (3 variants)
  • Lissencephaly (3 variants)
  • Tubulinopathy-associated dysgyria (2 variants)
  • Lissencephaly type 3 (2 variants)
  • Cerebral palsy (1 variants)
  • Congenital bilateral perisylvian syndrome (1 variants)
  • TUBA1A-related disorder (1 variants)
  • Congenital bilateral perisylvian syndrome;Congenital fibrosis of extraocular muscles (1 variants)
  • TUBA1A-associated tubulinopathy (1 variants)
  • Tubulinopathy-associated dysgyria;West syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBA1B-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
57
clinvar
112
clinvar
66
clinvar
76
clinvar
12
clinvar
323
Total 57 112 66 76 12

Variants in TUBA1B-AS1

This is a list of pathogenic ClinVar variants found in the TUBA1B-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
12-49128209-C-G Neuromuscular disease Uncertain significance (Nov 22, 2024)3383280
12-49128628-C-T TUBA1B-associated neurodevelopmental disorder Uncertain significance (Apr 13, 2023)2576622
12-49128760-T-C Congenital fibrosis of extraocular muscles Uncertain significance (Mar 12, 2024)3061815
12-49128795-T-C Benign (Mar 27, 2020)768541
12-49128822-C-T Benign (Mar 27, 2020)1236526
12-49128881-T-A not specified Uncertain significance (Aug 12, 2024)3464309
12-49129702-G-A Benign (Jun 28, 2018)747171
12-49129740-GAT-G Benign (Apr 19, 2019)1264540
12-49184799-T-C Likely benign (Jun 14, 2018)309110
12-49185008-CT-C not specified Likely benign (Nov 19, 2019)422892
12-49185019-C-T Likely benign (Jan 19, 2024)1561411
12-49185024-CT-C Tubulinopathy Likely pathogenic (Jul 01, 2018)625473
12-49185037-C-T Benign (Oct 20, 2018)793449
12-49185059-C-T Tubulinopathy • TUBA1A-associated tubulinopathy Pathogenic/Likely pathogenic (Jul 29, 2021)625512
12-49185060-C-G Tubulinopathy Pathogenic (Jul 01, 2018)625497
12-49185062-A-G Lissencephaly due to TUBA1A mutation • Tubulinopathy Likely pathogenic (Jul 01, 2018)437120
12-49185062-ACCT-A not specified • Lissencephaly;Polymicrogyria • Inborn genetic diseases Uncertain significance (Apr 09, 2021)437119
12-49185063-CCTCCTCATAATCCTT-C Lissencephaly due to TUBA1A mutation Pathogenic (Sep 26, 2019)1065497
12-49185075-C-T Uncertain significance (Jul 01, 2018)623807
12-49185081-C-G Tubulinopathy Pathogenic (Jul 01, 2018)625488
12-49185083-A-T Uncertain significance (Feb 06, 2022)2094235
12-49185090-C-T Uncertain significance (May 12, 2022)1993680
12-49185092-A-T Lissencephaly due to TUBA1A mutation • Tubulinopathy Pathogenic/Likely pathogenic (Jul 01, 2018)160148
12-49185098-T-C Lissencephaly due to TUBA1A mutation Likely pathogenic (Mar 23, 2023)2498154
12-49185100-A-C Benign (Dec 02, 2023)1290545

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP