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Mutation Direct

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Gene: HGF & Disease: DFNB39, 32 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14949	HGF	c.495G>A	p.Ser165= (p.S165=)	NM_000601.6 M	SNV	P	1 +	1
14950	HGF	c.482+1986_482+1988del	--	NM_000601.6 M	MS	P	1 +	1
14951	HGF	c.482+1991_482+2000del	--	NM_000601.6 M	MS	P	1 +	1
178380	HGF	c.1891G>A	p.Val631Met (p.V631M)	NM_000601.6 M	SNV	LB	1 +	1
14949	HGF	c.495G>A	p.Ser165= (p.S165=)	NM_001010931.3	SNV	P	1 +	1
	HGF	c.495G>A	p.Ser165= (p.S165=)	NM_001010934.3	SNV	P	1 +	1
	HGF	c.483-3G>A	--	NM_001010932.3	SNV	P	1 +	1
	HGF	c.483-3G>A	--	NM_001010933.3	SNV	P	1 +	1
14950	HGF	c.482+1986_482+1988del	--	NM_001010932.3	MS	P	1 +	1
	HGF	c.482+1986_482+1988del	--	NM_001010933.3	MS	P	1 +	1
	HGF	c.482+1986_482+1988del	--	NM_001010931.3	MS	P	1 +	1
	HGF	c.482+1986_482+1988del	--	NM_001010934.3	MS	P	1 +	1
14951	HGF	c.482+1991_482+2000del	--	NM_001010932.3	MS	P	1 +	1
	HGF	c.482+1991_482+2000del	--	NM_001010933.3	MS	P	1 +	1
	HGF	c.482+1991_482+2000del	--	NM_001010931.3	MS	P	1 +	1
	HGF	c.482+1991_482+2000del	--	NM_001010934.3	MS	P	1 +	1
178380	HGF	c.1876G>A	p.Val626Met (p.V626M)	NM_001010932.3	SNV	LB	1 +	1
1245186	HGF	c.866-22del	--	NM_000601.6 M	Del	B	1 +	0
1802248	HGF	c.1810T>C	p.Cys604Arg (p.C604R)	NM_000601.6 M	SNV	VUS	1 +	0
43606	HGF	c.1008G>A	p.Glu336= (p.E336=)	NM_000601.6 M	SNV	LB	1 +	0

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