rs746448347

This variant is located in the NADSYN1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter2 publications

Vertebral, cardiac, renal, and limb defects syndrome 3

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About NADSYN1

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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