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Gene: GNMT & Disease: GNMT DEFICIENCY, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4169	GNMT	c.149T>C	p.Leu50Pro (p.L50P)	NM_018960.6 M	SNV	P	1 +	2
4169	GNMT	c.149T>C	p.Leu50Pro (p.L50P)	NM_001318865.2	SNV	P	1 +	2
218931	GNMT	c.422A>G	p.Asn141Ser (p.N141S)	NM_018960.6 M	SNV	P	1 +	1
4170	GNMT	c.529C>A	p.His177Asn (p.H177N)	NM_018960.6 M	SNV	P	1 +	1
218931	GNMT	c.422A>G	p.Asn141Ser (p.N141S)	NM_001318865.2	SNV	P	1 +	1
4170	GNMT	c.472C>A	p.His158Asn (p.H158N)	NM_001318865.2	SNV	P	1 +	1

共6个结果, 每页展示20条

1

Comparison

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