TUBA1B-AS1

TUBA1B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:49127782-49188484

Links

ENSG00000258017 ∙ NCBI:105369760 ∙ ∙ HGNC:56356 ∙ ∙ ∙ 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 TUBA1B-AS1 gene.

• not provided (175 variants)
• Tubulinopathy (113 variants)
• Lissencephaly due to TUBA1A mutation (99 variants)
• not specified (34 variants)
• Inborn genetic diseases (21 variants)
• Tubulinopathy-associated dysgyria (7 variants)
• TUBA1A-related condition (6 variants)
• Lissencephaly (6 variants)
• TUBA1A-associated tubulinopathy (4 variants)
• Lissencephaly type 3 (3 variants)
• Cerebral palsy (2 variants)
• Congenital fibrosis of extraocular muscles;Congenital bilateral perisylvian syndrome (2 variants)
• Abnormal brainstem morphology;Abnormal cortical gyration (1 variants)
• Abnormality of movement (1 variants)
• Congenital cerebellar hypoplasia (1 variants)
• Corpus callosum, agenesis of;Lissencephaly due to TUBA1A mutation;Genetic syndrome with a Dandy-Walker malformation as major feature (1 variants)
• Abnormal cerebral morphology (1 variants)
• Abnormal brain morphology (1 variants)
• Abnormality of neuronal migration (1 variants)
• Neurodevelopmental disorder (1 variants)
• Lissencephaly;Polymicrogyria (1 variants)
• Abnormality of the nervous system (1 variants)
• Rare genetic intellectual disability (1 variants)
• Seizure (1 variants)
• Cryptorchidism;Corpus callosum, agenesis of;Lissencephaly (1 variants)
• TUBA1B-associated neurodevelopmental disorder (1 variants)
• Lissencephaly due to LIS1 mutation (1 variants)
• Global developmental delay;Decreased head circumference;Seizure (1 variants)
• Dandy-Walker syndrome (1 variants)
• Recurrent hand flapping (1 variants)
• Congenital bilateral perisylvian syndrome (1 variants)
• Early myoclonic encephalopathy;Tubulinopathy-associated dysgyria;Continuous spike and waves during slow sleep (1 variants)
• Corpus callosum, agenesis of;Cerebellar vermis hypoplasia;Lissencephaly due to TUBA1A mutation (1 variants)
• Autosomal recessive limb-girdle muscular dystrophy type 2D (1 variants)
• Congenital fibrosis of extraocular muscles (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)			1			1
splice region						0
non coding	58	123	58	57	16	312
Total	58	123	59	57	16

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
12-49128628-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)
12-49129702-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)
12-49185101-C-T		Lissencephaly due to TUBA1A mutation • Tubulinopathy • Lissencephaly	Pathogenic (Jun 03, 2022)
12-49185102-G-A		Lissencephaly due to TUBA1A mutation • Inborn genetic diseases • Tubulinopathy	Pathogenic (Dec 19, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP