rs915084265

This variant is located in the DYNC2H1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Jeune thoracic dystrophy; Inborn genetic diseases

About DYNC2H1

This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

View all DYNC2H1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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