FRMD1
Chr 6ARFERM domain containing 1
Primary Disease Associations & Inheritance
Chudley-McCullough syndromeMIM #604213
AR
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.42
OE 0.91 (0.65–1.30)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.09Z-score
OE missense 1.01 (0.93–1.11)
348 obs / 343.4 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.91 (0.65–1.30)
0≤0.351.4
Missense OE?1.01 (0.93–1.11)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 22 / 24.2Missense obs/exp: 348 / 343.4Syn Z: -1.07
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
FRMD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools