rs786203997

This is a variant in the NDUFA7 gene that changes a methionine to an valine.

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ClinVar annotation

Pathogenic★★★☆
4 submitters5 publications

Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (DBA15)

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About NDUFA7

This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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