HECW1-IT1

Chr 7

HECW1 intronic transcript 1

NCBI Gene: 100127950ENSG00000181211
30
ClinVar variants
24
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— HECW1-IT1
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 6 VUS of 30 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

30 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic1
VUS6
23
Pathogenic
1
Likely Pathogenic
6
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————23
Likely Pathogenic
————1
VUS
————6
Likely Benign
————0
Benign
————0
Total—30

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HECW1-IT1 · 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 HECW1-IT1

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