CDRT4

Chr 17

CMT1A duplicated region transcript 4

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.88
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?
1.88LOEUF
pLI 0.096
Z-score 0.08
OE 0.92 (0.251.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.04Z-score
OE missense 0.99 (0.831.18)
87 obs / 87.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.92 (0.251.88)
00.351.4
Missense OE?0.99 (0.831.18)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 87 / 87.9Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDRT4 · 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.

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