rs199545638

This variant is located in the CHRNA1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters2 publications

Lethal multiple pterygium syndrome; not provided; not specified

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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.

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