SNORA40B

Chr 2

small nucleolar RNA, H/ACA box 40B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

5
ClinVar variants
2
Pathogenic / LP
pLI score
0
Active trials
Clinical SummarySNORA40B
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic· 3 VUS of 5 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

5 submitted variants in ClinVar

Classification Summary

Pathogenic2
VUS3
2
Pathogenic
3
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
Likely Pathogenic
0
VUS
3
Likely Benign
0
Benign
0
Total5

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNORA40B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.