rs765709301

This variant is located in the IFT172 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71

View on ClinVar →

About IFT172

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]

View all IFT172 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…