rs143131218

This variant is located in the FANCB gene.

▶

ClinVar annotation

Likely Benign★★★☆
6 submitters3 publications

Fanconi anemia; VACTERL association, X-linked, with or without hydrocephalus; Fanconi anemia complementation group B; not specified; not provided; FANCB-related disorder

View on ClinVar →

About FANCB

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

View all FANCB 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…