CLIC6

Chr 21

CLIC family member 6

Also known as: CLIC1L

NCBI Gene: 54102ENSG00000159212UniProt: Q96NY7OMIM: 615321

This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.000
Z-score 1.30
OE 0.63 (0.38–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.68Z-score
OE missense 0.88 (0.79–0.98)
220 obs / 250.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.38–1.10)
0≤0.351.4
Missense OE?0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 9 / 14.3Missense obs/exp: 220 / 250.3Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CLIC6 · 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