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Mutation Direct

Effortless mutation search and display tool

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Gene: GAMT & Disease: Congenital Nervous System Abnormality, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
566624	GAMT	c.316C>T	p.Gln106Ter (p.Q106X)	NM_000156.6 M	SNV	P	5 +	4
566624	GAMT	c.316C>T	p.Gln106Ter (p.Q106X)	NM_138924.3	SNV	P	5 +	4

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