DTHD1

Chr 4

death domain containing 1

NCBI Gene: 401124ENSG00000197057UniProt: Q6ZMT9OMIM: 616979

This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

GeneReviewsOMIMResearchGenerating clinical summary…

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.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
LOF
Mechanism· G2P
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GeneReview available — DTHD1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.26
OE 0.54 (0.36–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.99Z-score
OE missense 0.86 (0.78–0.94)
332 obs / 386.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.36–0.83)
0≤0.351.4
Missense OE?0.86 (0.78–0.94)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 15 / 27.9Missense obs/exp: 332 / 386.7Syn Z: 2.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DTHD1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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