SLC13A1
Chr 7ARsolute carrier family 13 member 1
Also known as: HSSD, NAS1, NaSi-1
Primary Disease Associations & Inheritance
Hyposulfatemia with skeletal dysplasiaMIM #621654
AR
Clinical highlights
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.56
OE 0.89 (0.66–1.22)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.50Z-score
OE missense 0.92 (0.84–1.01)
293 obs / 318.2 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.89 (0.66–1.22)
0≤0.351.4
Missense OE?0.92 (0.84–1.01)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 28 / 31.4Missense obs/exp: 293 / 318.2Syn Z: 0.40
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC13A1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools