Mutations on the Protein: Q96SN8 From Positions: 1514 To 1609
dbSNP Polymorphism: rs16909747 
dbSNP Polymorphism: rs4837768 
OMIM Disease: 608201.0005 

p.ARG1558TER

N/A
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N/A
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MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
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OMIM Disease: 608201.0004 

p.GLU1516TER

N/A
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N/A
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MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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