TRV-CAC8-1

Chr 1

tRNA-Val (CAC) 8-1

Also known as: TRNAV16

9
ClinVar variants
8
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTRV-CAC8-1
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic of 9 total submissions
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TRV-CAC8-1?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

9 submitted variants in ClinVar

Classification Summary

Pathogenic8
Benign1
8
Pathogenic
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
8
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
1
Total9

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRV-CAC8-1 · 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.