BTD c.1413T>C
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- BTD
- Coding
- c.1413T>C
- MANE Select
- NM_001370658 · reported on NM_000060
- Type
- single nucleotide variant
- Gene constraint
- LOEUF 1.22 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.77
Similar variants
- BTD c.1330G>C Pathogenic ★★ same type
- BTD c.249+1G>T Likely pathogenic ★★ same type
- BTD c.400-2A>G Likely pathogenic ★★ same type
- BTD c.-17+2T>C Pathogenic/Likely pathogenic ★★ same type
- BTD p.Ala142Val Pathogenic/Likely pathogenic ★★ same type
- BTD p.Ala217Thr Pathogenic/Likely pathogenic ★★ ⚠ same type
- BTD p.Ala269Val Pathogenic/Likely pathogenic ★★ same type
- BTD p.Ala279Pro Pathogenic/Likely pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/btd-c-1413t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown