rs751701114

This variant is located in the GUCY1A1 gene.

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ClinVar annotation

Pathogenic
2 submitters1 publication

Moyamoya disease with early-onset achalasia; Moyamoya disease 1

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About GUCY1A1

Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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