TMA7B

Chr 22

translation machinery associated 7 homolog B

4
ClinVar variants
4
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTMA7B
📋
ClinVar Variants
4 Pathogenic / Likely Pathogenic of 4 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

4 submitted variants in ClinVar

Classification Summary

Pathogenic4
4
Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total4

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TMA7B · 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.