CHLSN

Chr 7

cholesin

Also known as: C7orf50, YCR016W

NCBI Gene: 84310ENSG00000146540UniProt: Q9BRJ6

Enables hormone activity. Involved in negative regulation of cholesterol biosynthetic process. Is active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

249
ClinVar variants
39
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CHLSN
📋
ClinVar Variants
39 Pathogenic / Likely Pathogenic· 187 VUS of 249 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

249 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic1
VUS187
Likely Benign17
Benign6
38
Pathogenic
1
Likely Pathogenic
187
VUS
17
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
1
0
1
VUS
0
176
11
0
187
Likely Benign
0
12
0
5
17
Benign
0
2
0
4
6
Total0190509249

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CHLSN · 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

OMIM
CHOLESIN; CHLSN
MIM #621174 · *
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for CHLSN

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools