SPATA19

Chr 11

spermatogenesis associated 19

Also known as: CT132, SPAS1, spergen1

NCBI Gene: 219938ENSG00000166118UniProt: Q7Z5L4OMIM: 609805

Predicted to be involved in sperm mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.49
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.49LOEUF
pLI 0.000
Z-score 0.25
OE 0.92 (0.59–1.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.28Z-score
OE missense 1.08 (0.92–1.27)
108 obs / 100.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.92 (0.59–1.49)
0≤0.351.4
Missense OE?1.08 (0.92–1.27)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 12 / 13.0Missense obs/exp: 108 / 100.1Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPATA19 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients