rs780388471
This variant is located in the CISD2 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters2 publicationsnot provided; Wolfram syndrome 2
View on ClinVar →About CISD2
The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]
View all CISD2 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…