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Mutation Direct

Effortless mutation search and display tool

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Gene: SCAF4 & Disease: Non-Specific Syndromic Intellectual Disability, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1699102	SCAF4	c.749delC	--	NM_020706.2 M	Del	P	1 +	1
	SCAF4	c.749del	p.Pro250fs (p.P250fs)	NM_020706.2 M	Del	P	1 +	1
	SCAF4	c.704del	p.Pro235fs (p.P235fs)	NM_001145444.1	Del	P	1 +	1
	SCAF4	c.749del	p.Pro250fs (p.P250fs)	NM_001145445.1	Del	P	1 +	1

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