BTD c.973A>G
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- BTD
- Coding
- c.973A>G
- 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 p.Gly94Val Pathogenic/Likely pathogenic ★★ same condition
- BTD p.His465Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BTD p.Asn152Ser Uncertain significance ★★ ⚠ same condition
- BTD p.Asp304Glu Uncertain significance ★★ ⚠ same condition
- BTD p.Asp348Ala Uncertain significance ★★ ⚠ same condition
- BTD p.Cys351Arg Uncertain significance ★★ ⚠ same condition
- BTD p.Gln68His Uncertain significance ★★ ⚠ same condition
- BTD p.Gly273Arg Uncertain significance ★★ ⚠ same condition
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-973a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown