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Gene: MTHFD1 & Disease: SCID, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
446303	MTHFD1	c.517C>T	p.Arg173Cys (p.R173C)	NM_005956.4 M	SNV	P	2 +	5
446306	MTHFD1	c.146C>T	p.Ser49Phe (p.S49F)	NM_005956.4 M	SNV	P	2 +	5
446303	MTHFD1	c.517C>T	p.Arg173Cys (p.R173C)	NM_001364837.1	SNV	P	2 +	5
446306	MTHFD1	c.146C>T	p.Ser49Phe (p.S49F)	NM_001364837.1	SNV	P	2 +	5
1878421	MTHFD1	c.2629C>T	p.Gln877Ter (p.Q877X)	NM_005956.4 M	SNV	LP	1 +	0
1696279	MTHFD1	c.2529del	p.Glu844fs (p.E844fs)	NM_005956.4 M	Del	LP	1 +	0
2501176	MTHFD1	c.1807G>T	p.Glu603Ter (p.E603X)	NM_005956.4 M	SNV	LP	1 +	0
1696278	MTHFD1	c.1006C>T	p.Arg336Ter (p.R336X)	NM_005956.4 M	SNV	LP	1 +	0
1878421	MTHFD1	c.2629C>T	p.Gln877Ter (p.Q877X)	NM_001364837.1	SNV	LP	1 +	0
1696279	MTHFD1	c.2529del	p.Glu844fs (p.E844fs)	NM_001364837.1	Del	LP	1 +	0
2501176	MTHFD1	c.1807G>T	p.Glu603Ter (p.E603X)	NM_001364837.1	SNV	LP	1 +	0
1696278	MTHFD1	c.1006C>T	p.Arg336Ter (p.R336X)	NM_001364837.1	SNV	LP	1 +	0

12 Results, 20 per Page

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