KCNK4-CATSPERZ

Chr 11

KCNK4-CATSPERZ readthrough (NMD candidate)

NCBI Gene: 106780802ENSG00000257069
414
ClinVar variants
7
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— KCNK4-CATSPERZ
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 199 VUS of 414 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

414 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2
Likely Pathogenic5
VUS199
Likely Benign166
Benign18
Conflicting24
2
Pathogenic
5
Likely Pathogenic
199
VUS
166
Likely Benign
18
Benign
24
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
2
0
0
2
Likely Pathogenic
0
4
1
0
5
VUS
10
172
16
1
199
Likely Benign
2
39
28
97
166
Benign
0
9
4
5
18
Conflicting
—24
Total1222649103414

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KCNK4-CATSPERZ · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for KCNK4-CATSPERZ

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