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Gene: SRGAP1 & Disease: NMTC2, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
739690	SRGAP1	c.2225-7G>A	--	NM_020762.4 M	SNV	LB	1 +	2
739690	SRGAP1	c.2156-7G>A	--	NM_001346201.2	SNV	LB	1 +	2
208457	SRGAP1	c.823G>A	p.Ala275Thr (p.A275T)	NM_020762.4 M	SNV	P	1 +	1
208458	SRGAP1	c.1849C>T	p.Arg617Cys (p.R617C)	NM_020762.4 M	SNV	VUS	1 +	1
208456	SRGAP1	c.447A>C	p.Gln149His (p.Q149H)	NM_020762.4 M	SNV	P	1 +	1
931830	SRGAP1	c.731_732insAG	p.Leu245fs (p.L245fs)	NM_020762.4 M	Ins	VUS	1 +	1
208457	SRGAP1	c.823G>A	p.Ala275Thr (p.A275T)	NM_001346201.2	SNV	P	1 +	1
208458	SRGAP1	c.1780C>T	p.Arg594Cys (p.R594C)	NM_001346201.2	SNV	VUS	1 +	1
208456	SRGAP1	c.447A>C	p.Gln149His (p.Q149H)	NM_001346201.2	SNV	P	1 +	1
931830	SRGAP1	c.731_732insAG	p.Leu245fs (p.L245fs)	NM_001346201.2	Ins	VUS	1 +	1
1050742	SRGAP1	c.182C>T	p.Thr61Met (p.T61M)	NM_020762.4 M	SNV	VUS	1 +	0
1050742	SRGAP1	c.182C>T	p.Thr61Met (p.T61M)	NM_001346201.2	SNV	VUS	1 +	0

12 Results, 20 per Page

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