rs1378856635

This variant is located in the KLHL40 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

Nemaline myopathy 8; not provided; Inborn genetic diseases

View on ClinVar →

About KLHL40

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

View all KLHL40 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…