rs564090863

This variant is located in the CHRNA1 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Congenital myasthenic syndrome; Lethal multiple pterygium syndrome

About CHRNA1

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]

View all CHRNA1 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…