FAM13C

Chr 10

family with sequence similarity 13 member C

Also known as: FAM13C1

NCBI Gene: 220965ENSG00000148541UniProt: Q8NE31

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.63
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.63LOEUF
pLI 0.000
Z-score 3.20
OE 0.40 (0.26–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.76Z-score
OE missense 0.73 (0.65–0.81)
237 obs / 326.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.26–0.63)
0≤0.351.4
Missense OE?0.73 (0.65–0.81)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 13 / 32.8Missense obs/exp: 237 / 326.5Syn Z: -0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM13C · 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