C17ORF114

Chr 17

chromosome 17 open reading frame 114

NCBI Gene: 119139905ENSG00000262165UniProt: A0A1B0GUV1
14
ClinVar variants
11
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— C17ORF114
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 2 VUS of 14 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

14 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS2
Likely Benign1
10
Pathogenic
1
Likely Pathogenic
2
VUS
1
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————10
Likely Pathogenic
————1
VUS
————2
Likely Benign
————1
Benign
————0
Total—14

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C17ORF114 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for C17ORF114

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