FAM246C

Chr 22

family with sequence similarity 246 member C (gene/pseudogene)

NCBI Gene: 117134596ENSG00000286025UniProt: P0DSO1
183
ClinVar variants
174
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— FAM246C
📋
ClinVar Variants
174 Pathogenic / Likely Pathogenic· 9 VUS of 183 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

183 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic174
VUS9
174
Pathogenic
9
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————174
Likely Pathogenic
————0
VUS
————9
Likely Benign
————0
Benign
————0
Total—183

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM246C · 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 FAM246C

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