CLN8-AS1

CLN8 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:1758208-1764663

Links

ENSG00000253982 ∙ NCBI:101927752 ∙ ∙ HGNC:55523 ∙ ∙ ∙ 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 CLN8-AS1 gene.

• not specified (3 variants)
• not provided (3 variants)
• Neuronal ceroid lipofuscinosis 8 (1 variants)
• Neuronal ceroid lipofuscinosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLN8-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			1	1	3	5
Total	0	0	1	1	3

Variants in CLN8-AS1

This is a list of pathogenic ClinVar variants found in the CLN8-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
8-1763857-GCAGGGAGCCCGGCTGAGTGGCAGCCCAGGTGAGCGCT-G			Uncertain significance (Feb 16, 2017)
8-1763875-TGGCAGCCCAGGTGAGCGCTCA-T		Neuronal ceroid lipofuscinosis 8	Uncertain significance (Jul 27, 2017)
8-1763878-C-CAGCCCAGGTGAGCGCTCAGGG		not specified • Neuronal ceroid lipofuscinosis	Uncertain significance (May 28, 2019)
8-1763880-G-T			Benign (Apr 09, 2015)
8-1763883-C-T		not specified	Benign (Dec 01, 2013)
8-1763892-G-A		not specified	Likely benign (Sep 12, 2017)
8-1763998-G-A			Benign (May 17, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP