SPATA31F3

Chr 9

SPATA31 subfamily F member 3

Also known as: FAM205C, FAM205CP

NCBI Gene: 100129969ENSG00000187791UniProt: A6NFA0

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

32
ClinVar variants
30
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SPATA31F3
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 1 VUS of 32 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

32 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic3
VUS1
Likely Benign1
27
Pathogenic
3
Likely Pathogenic
1
VUS
1
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————27
Likely Pathogenic
————3
VUS
————1
Likely Benign
————1
Benign
————0
Total—32

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SPATA31F3 · 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 SPATA31F3

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