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Gene: GCK & Disease: HHF1, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2506148	GCK	c.1354G>C	p.Val452Leu (p.V452L)	NM_000162.5 M	SNV	LP	2 +	9
	GCK	c.1354G>C	p.Val452Leu (p.V452L)	NM_001354800.1	SNV	LP	2 +	9
	GCK	c.343G>C	p.Val115Leu (p.V115L)	NM_001354801.1	SNV	LP	2 +	9
	GCK	c.214G>C	p.Val72Leu (p.V72L)	NM_001354802.1	SNV	LP	2 +	9
	GCK	c.388G>C	p.Val130Leu (p.V130L)	NM_001354803.2	SNV	LP	2 +	9
	GCK	c.1357G>C	p.Val453Leu (p.V453L)	NM_033507.3	SNV	LP	2 +	9
	GCK	c.1351G>C	p.Val451Leu (p.V451L)	NM_033508.3	SNV	LP	2 +	9

7 Results, 20 per Page

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