SNORA31

small nucleolar RNA, H/ACA box 31, the group of Small nucleolar RNAs, H/ACA box

Basic information

Region (hg38): 13:45337480-45337609

Links

ENSG00000199477 ∙ NCBI:677814 ∙ OMIM:619378 ∙ HGNC:32621 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1	AD	Allergy/Immunology/Infectious	The condition can involve susceptibility to herpes encephalitis, and awareness may allow early and aggressive management of infections	Allergy/Immunology/Infectious	31806906

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SNORA31 gene.

• Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNORA31 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						0
Total	0	0	0	0	0

Variants in SNORA31

This is a list of pathogenic ClinVar variants found in the SNORA31 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-45337499-A-G		Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10	risk factor (Jul 01, 2021)
13-45337514-A-C		Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10	risk factor (Jul 01, 2021)
13-45337535-G-C		Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10	risk factor (Jul 01, 2021)
13-45337574-A-G		Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10	risk factor (Jul 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.231