TUBA1B-AS1
Basic information
Region (hg38): 12:49127782-49188484
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | 112 | 66 | 76 | 12 | 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) | ||
12-49128628-C-T | TUBA1B-associated neurodevelopmental disorder | Uncertain significance (Apr 13, 2023) | ||
12-49128760-T-C | Congenital fibrosis of extraocular muscles | Uncertain significance (Mar 12, 2024) | ||
12-49128795-T-C | Benign (Mar 27, 2020) | |||
12-49128822-C-T | Benign (Mar 27, 2020) | |||
12-49128881-T-A | not specified | Uncertain significance (Aug 12, 2024) | ||
12-49129702-G-A | Benign (Jun 28, 2018) | |||
12-49129740-GAT-G | Benign (Apr 19, 2019) | |||
12-49184799-T-C | Likely benign (Jun 14, 2018) | |||
12-49185008-CT-C | not specified | Likely benign (Nov 19, 2019) | ||
12-49185019-C-T | Likely benign (Jan 19, 2024) | |||
12-49185024-CT-C | Tubulinopathy | Likely pathogenic (Jul 01, 2018) | ||
12-49185037-C-T | Benign (Oct 20, 2018) | |||
12-49185059-C-T | Tubulinopathy • TUBA1A-associated tubulinopathy | Pathogenic/Likely pathogenic (Jul 29, 2021) | ||
12-49185060-C-G | Tubulinopathy | Pathogenic (Jul 01, 2018) | ||
12-49185062-A-G | Lissencephaly due to TUBA1A mutation • Tubulinopathy | Likely pathogenic (Jul 01, 2018) | ||
12-49185062-ACCT-A | not specified • Lissencephaly;Polymicrogyria • Inborn genetic diseases | Uncertain significance (Apr 09, 2021) | ||
12-49185063-CCTCCTCATAATCCTT-C | Lissencephaly due to TUBA1A mutation | Pathogenic (Sep 26, 2019) | ||
12-49185075-C-T | Uncertain significance (Jul 01, 2018) | |||
12-49185081-C-G | Tubulinopathy | Pathogenic (Jul 01, 2018) | ||
12-49185083-A-T | Uncertain significance (Feb 06, 2022) | |||
12-49185090-C-T | Uncertain significance (May 12, 2022) | |||
12-49185092-A-T | Lissencephaly due to TUBA1A mutation • Tubulinopathy | Pathogenic/Likely pathogenic (Jul 01, 2018) | ||
12-49185098-T-C | Lissencephaly due to TUBA1A mutation | Likely pathogenic (Mar 23, 2023) | ||
12-49185100-A-C | Benign (Dec 02, 2023) |
GnomAD
Source:
dbNSFP
Source: