rs387907076

This is a protein-altering variant in the ALLC gene.

ClinVar annotation

Pathogenic☆☆☆
4 submitters1 publication

3MC syndrome 2

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About ALLC

Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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