rs1267333057

This variant is located in the ANAPC1 gene.

▶

ClinVar annotation

Pathogenic

1 submitter1 publication

Rothmund-Thomson syndrome type 1

About ANAPC1

This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]

View all ANAPC1 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…