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Mutation Direct

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Gene: TMEM199 & Disease: IMD47, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
223000	TMEM199	c.40G>C	p.Ala14Pro (p.A14P)	NM_152464.3 M	SNV	P	2 +	2
218964	TMEM199	c.92G>C	p.Arg31Pro (p.R31P)	NM_152464.3 M	SNV	P	2 +	2
218965	TMEM199	c.20C>A	p.Ala7Glu (p.A7E)	NM_152464.3 M	SNV	P	2 +	1

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