TRF-GAA5-1

Chr 6

tRNA-Phe (anticodon GAA) 5-1

Also known as: TRNAF4

4
ClinVar variants
2
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTRF-GAA5-1
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic· 1 VUS of 4 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TRF-GAA5-1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

4 submitted variants in ClinVar

Classification Summary

Pathogenic2
VUS1
Benign1
2
Pathogenic
1
VUS
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
Likely Pathogenic
0
VUS
1
Likely Benign
0
Benign
1
Total4

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRF-GAA5-1 · 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.