DTHD1 Chromosome 4
Death domain containing 1
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What This Gene Does
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]
Gene Info
Gene Group
ZU5 domain containing
Locus Type
gene with protein product
Location
4p14
Ensembl
ENSG00000197057
Associated Conditions (1)
Retinal dystrophy
Key Variants
RS1228231249
Conflicting classifications of pathogenicity
Health Risk
RS1428896067
Conflicting classifications of pathogenicity
Health Risk
RS144952478
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS181892217
Conflicting classifications of pathogenicity
Health Risk
RS200787538
Conflicting classifications of pathogenicity
Health Risk
RS201876616
Conflicting classifications of pathogenicity
Health Risk
RS529758698
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1228231249 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1428896067 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144952478 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS181892217 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200787538 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201876616 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS529758698 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |