TRL-AAG2-2

Chr 6AR

tRNA-Leu (anticodon AAG) 2-2

Also known as: TRL-AAG2-4, TRNAL20

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with microcephaly and gray scleraeMIM #617051
AR
3
ClinVar variants
2
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTRL-AAG2-2
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic· 1 VUS of 3 total submissions
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TRL-AAG2-2?content-type=application/json&expand=1

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

3 submitted variants in ClinVar

Classification Summary

Pathogenic2
VUS1
2
Pathogenic
1
VUS

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
0
Total3

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRL-AAG2-2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

Neurodevelopmental disorder with microcephaly and gray sclerae

MIM #617051

Molecular basis of disorder known

Autosomal recessive