ATXN7L3-AS1

ATXN7L3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:44198520-44234868

Links

ENSG00000267394 ∙ NCBI:101926967 ∙ ∙ HGNC:55298 ∙ ∙ ∙ 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 ATXN7L3-AS1 gene.

• not provided (37 variants)
• Inborn genetic diseases (12 variants)
• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (10 variants)
• not specified (2 variants)
• UBTF-related condition (1 variants)
• Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability (1 variants)
• Neurodevelopmental disorder (1 variants)
• Rare syndromic intellectual disability (1 variants)
• UBTF-Related Disorder (1 variants)
• See cases (1 variants)
• UBTF E210K Neuroregression Syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATXN7L3-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		4	34	4	17	59
Total	0	4	34	4	17

Variants in ATXN7L3-AS1

This is a list of pathogenic ClinVar variants found in the ATXN7L3-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
17-44207100-AT-A			Benign (May 15, 2021)
17-44207246-T-G		Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Uncertain significance (Oct 07, 2020)
17-44207301-C-T		Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Uncertain significance (Mar 26, 2024)
17-44207324-T-C		Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Uncertain significance (May 09, 2019)
17-44207332-CTCG-C		Inborn genetic diseases	Benign (Jun 01, 2022)
17-44207332-C-CTCG		not specified	Uncertain significance (Feb 27, 2024)
17-44207335-G-C		Inborn genetic diseases	Uncertain significance (Nov 13, 2024)
17-44207341-G-T		Inborn genetic diseases	Likely benign (Dec 09, 2023)
17-44207374-G-A		UBTF-related disorder	Likely benign (Mar 22, 2021)
17-44207459-C-A			Uncertain significance (-)
17-44207480-C-T		Inborn genetic diseases	Uncertain significance (Feb 22, 2023)
17-44207498-A-G			Uncertain significance (Oct 24, 2023)
17-44207502-G-A			Likely benign (Jun 27, 2018)
17-44207509-T-C			Uncertain significance (Oct 01, 2024)
17-44207517-G-GGA			Uncertain significance (May 19, 2021)
17-44207524-C-T		Inborn genetic diseases	Uncertain significance (Jan 10, 2023)
17-44207529-CTCA-C			Uncertain significance (Dec 12, 2023)
17-44207562-G-A			Likely benign (Apr 01, 2023)
17-44207577-TTCA-T		Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Uncertain significance (Jul 19, 2022)
17-44207709-T-C		Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Uncertain significance (Oct 09, 2024)
17-44207710-G-A			Likely pathogenic (Feb 15, 2018)
17-44207721-C-A		UBTF-related disorder	Uncertain significance (Jun 03, 2024)
17-44207721-C-T		not specified	Uncertain significance (Jun 14, 2024)
17-44207722-G-A			Uncertain significance (Apr 27, 2024)
17-44207735-G-C		Inborn genetic diseases • UBTF-related disorder	Uncertain significance (Sep 14, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP