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Mutation Direct

Effortless mutation search and display tool

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Gene: APOB & Disease: HOFH, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17890	APOB	c.10580G>A	p.Arg3527Gln (p.R3527Q)	NM_000384.3 M	SNV	P	7 +	105
40223	APOB	c.10579C>T	p.Arg3527Trp (p.R3527W)	NM_000384.3 M	SNV	P	6 +	44
69508	APOB	c.9175C>T	p.Arg3059Cys (p.R3059C)	NM_000384.3 M	SNV	P	6 +	13

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