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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP