SNHG1

Chr 11

small nucleolar RNA host gene 1

Also known as: LINC00057, NCRNA00057, U22HG, UHG, lncRNA16

This locus represents a small nucleolar RNA host gene that produces multiple alternatively spliced long non-coding RNAs. This gene is upregulated in cancers and is thought to act as promoter of cell proliferation. This transcript negatively regulates tumor suppressor genes such as tumor protein p53. Expression of this locus may be a marker of tumor progression. [provided by RefSeq, Dec 2017]

17
ClinVar variants
11
Pathogenic / LP
pLI score
0
Active trials
Clinical SummarySNHG1
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 4 VUS of 17 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

17 submitted variants in ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic3
VUS4
Likely Benign1
Conflicting1
8
Pathogenic
3
Likely Pathogenic
4
VUS
1
Likely Benign
1
Conflicting

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
8
Likely Pathogenic
3
VUS
4
Likely Benign
1
Benign
0
Conflicting
1
Total17

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNHG1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Clinical Literature
Landmark / reviewRecent case evidence

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →