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TBC1D7-LOC100130357

Chr 6

TBC1D7-LOC100130357 readthrough

NCBI Gene: 107080638

The readthrough transcript between TBC1D7 and LOC100130357 may encode the same protein as TBC1D7, which functions as a component of the TSC1-TSC2-TBC1D7 complex that regulates mTORC1 signaling and cellular growth. Mutations in TBC1D7 cause intellectual disability with macrocephaly, seizures, and autism spectrum disorder with autosomal recessive inheritance. The clinical significance of this specific readthrough transcript remains unclear as it may be subject to nonsense-mediated decay.

ResearchSummary from RefSeq
Clinical Summary— TBC1D7-LOC100130357
📋
ClinVar Variants
23 unique Pathogenic / Likely Pathogenic· 81 VUS of 210 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TBC1D7-LOC100130357?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

210 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic21
Likely Pathogenic2
VUS81
Likely Benign49
Benign33
Conflicting6
21
Pathogenic
2
Likely Pathogenic
81
VUS
49
Likely Benign
33
Benign
6
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
3
13
0
21
Likely Pathogenic
2
0
0
0
2
VUS
5
73
3
0
81
Likely Benign
1
7
17
24
49
Benign
0
2
25
6
33
Conflicting
—6
Total13855830192

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

View in ClinVar →

Protein Context — Lollipop Plot

TBC1D7-LOC100130357 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →

No publications found for TBC1D7-LOC100130357

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients