rs886062283

This variant is located in the BBS9 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Bardet-Biedl syndrome 9

About BBS9

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]

View all BBS9 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

Loading comments…