KU-MEL-3

Chr 6

uncharacterized LOC497048

NCBI Gene: 497048ENSG00000205444
46
ClinVar variants
43
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— KU-MEL-3
📋
ClinVar Variants
43 Pathogenic / Likely Pathogenic· 2 VUS of 46 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

46 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic5
VUS2
38
Pathogenic
5
Likely Pathogenic
2
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————38
Likely Pathogenic
————5
VUS
————2
Likely Benign
————0
Benign
————0
Total—45

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KU-MEL-3 · 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 KU-MEL-3

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