TMEM252-DT

Chr 9

TMEM252 divergent transcript

21
ClinVar variants
20
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTMEM252-DT
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 1 VUS of 21 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic3
VUS1
17
Pathogenic
3
Likely Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
17
Likely Pathogenic
3
VUS
1
Likely Benign
0
Benign
0
Total21

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TMEM252-DT · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for TMEM252-DT

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →