FAM186B

Chr 12

family with sequence similarity 186 member B

Also known as: C12orf25

This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.24
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.33
OE 0.94 (0.721.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.80Z-score
OE missense 0.90 (0.830.97)
449 obs / 499.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.94 (0.721.24)
00.351.4
Missense OE?0.90 (0.830.97)
00.61.4
Synonymous OE?0.74
01.21.6
LoF obs/exp: 37 / 39.2Missense obs/exp: 449 / 499.0Syn Z: 2.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAM186B · 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

No active trials found for this gene.

Search ClinicalTrials.gov →