TBC1D31 Chromosome 8

TBC1 domain family member 31
1 variant 1 Health Risk

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What This Gene Does
Enables molecular adaptor activity. Involved in cilium assembly. Located in Golgi apparatus; centriolar satellite; and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
8q24.13
Ensembl
ENSG00000156787
Associated Conditions (1)
Inherited genitourinary tract anomalies
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS143770939 Health Risk Likely pathogenic Inherited genitourinary tract anomalies, Inherited genitourinary tract anomalies
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