TRI-AAT4-1

Chr 17

tRNA-Ile (anticodon AAT) 4-1

Also known as: TRNAI24

18
ClinVar variants
7
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTRI-AAT4-1
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 10 VUS of 18 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TRI-AAT4-1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

18 submitted variants in ClinVar

Classification Summary

Pathogenic7
VUS10
Likely Benign1
7
Pathogenic
10
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
0
10
0
10
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total0018018

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRI-AAT4-1 · 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.