TUBA1B-AS1

TUBA1B antisense RNA 1, the group of Antisense RNAs

Basic information

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 clinvar			1
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	58 clinvar	123 clinvar	58 clinvar	57 clinvar	16 clinvar	312
Total	58	123	59	57	16

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP