FANCD2OS

Chr 3

FANCD2 opposite strand

Also known as: C3orf24

This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.42
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.023
Z-score 0.93
OE 0.56 (0.261.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.32Z-score
OE missense 0.91 (0.771.08)
90 obs / 99.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.261.42)
00.351.4
Missense OE?0.91 (0.771.08)
00.61.4
Synonymous OE?0.82
01.21.6
LoF obs/exp: 3 / 5.3Missense obs/exp: 90 / 99.0Syn Z: 0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FANCD2OS · 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 →