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Heavy data lifting in progress
Fetching constraint metrics...
SPATA31 subfamily C member 1
Also known as: FAM75C1
Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Constraint data not available from gnomAD.
61 submitted variants in ClinVar
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 12 | 8 | 0 | 20 |
Likely Benign | 0 | 0 | 1 | 1 | 2 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 12 | 39 | 1 | 52 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →SPATA31C1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
No OMIM entries found.
Links to major genomics databases and tools
No open access results found
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools