rs1060499794

This is a variant in the ESRRB gene that changes a arginine to an histidine.

▶

ClinVar annotation

Pathogenic

1 submitter

Autosomal recessive nonsyndromic hearing loss 35

About ESRRB

This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

View all ESRRB 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…