rs121434429

This is a variant in the FCER1G gene that changes a serine to an proline.

ClinVar annotation

Pathogenic★★★
4 submitters4 publications

Mitochondrial complex 1 deficiency, nuclear type 6

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About FCER1G

The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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