SNHG8

small nucleolar RNA host gene 8, the group of Small nucleolar RNA non-coding host genes

Basic information

Region (hg38): 4:118278462-118285316

Links

ENSG00000269893 ∙ NCBI:100093630 ∙ ∙ HGNC:33098 ∙ ∙ ∙ 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 SNHG8 gene.

• Intellectual disability, autosomal recessive 1 (53 variants)
• Inborn genetic diseases (16 variants)
• not specified (11 variants)
• not provided (7 variants)
• Intellectual Disability, Recessive (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNHG8 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			64	13	5	82
Total	0	0	64	13	5

Variants in SNHG8

This is a list of pathogenic ClinVar variants found in the SNHG8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-118280071-A-G		Intellectual disability, autosomal recessive 1	Likely benign (Jan 13, 2018)
4-118280237-A-G		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118280276-A-G		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 12, 2018)
4-118280321-G-A		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118280341-T-C		Intellectual disability, autosomal recessive 1	Benign (Apr 27, 2017)
4-118280359-T-C		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118280363-C-T		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 12, 2018)
4-118280376-GTT-G		Intellectual Disability, Recessive	Benign (Jun 14, 2016)
4-118280432-C-T		Intellectual disability, autosomal recessive 1	Likely benign (Apr 27, 2017)
4-118280437-T-C		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118280501-T-C		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 12, 2018)
4-118280505-G-A		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118280793-G-A		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 12, 2018)
4-118280795-A-G		Intellectual disability, autosomal recessive 1	Uncertain significance (Apr 27, 2017)
4-118280986-T-G		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118281016-C-G		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118281024-C-T		Intellectual disability, autosomal recessive 1	Benign (Apr 27, 2017)
4-118281030-T-C		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 12, 2018)
4-118281032-T-A		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118281087-G-A		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118281094-G-C		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 12, 2018)
4-118281097-A-G		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 12, 2018)
4-118281106-G-A		Intellectual disability, autosomal recessive 1	Uncertain significance (Jan 13, 2018)
4-118281129-C-T		Intellectual disability, autosomal recessive 1	Likely benign (Apr 27, 2017)
4-118281136-C-T		Intellectual disability, autosomal recessive 1	Uncertain significance (Feb 02, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Snhg8