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Mutation Direct

Effortless mutation search and display tool

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Gene: CREBBP & Disease: Rare Genetic Intellectual Disability, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
280284	CREBBP	c.6241C>T	p.Gln2081Ter (p.Q2081X)	NM_004380.3 M	SNV	P	2 +	1
280284	CREBBP	c.6127C>T	p.Gln2043Ter (p.Q2043X)	NM_001079846.1	SNV	P	2 +	1
978401	CREBBP	c.5224A>G	p.Met1742Val (p.M1742V)	NM_004380.3 M	SNV	LP	1 +	0
978401	CREBBP	c.5110A>G	p.Met1704Val (p.M1704V)	NM_001079846.1	SNV	LP	1 +	0

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